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Gene Information

Gene symbol: HEXB

Gene name: hexosaminidase B (beta polypeptide)

HGNC ID: 4879

Related Genes

# Gene Symbol Number of hits
1 DPP7 1 hits
2 FOS 1 hits
3 HEXA 1 hits
4 INS 1 hits
5 MGEA5 1 hits
6 PTTG1IP 1 hits
7 SP6 1 hits
8 STEAP3 1 hits

Related Sentences

# PMID Sentence
1 851488 For example in serum of patients with juvenile diabetes mellitus there is a characteristic elevation of hexosaminidase B and less consistently, of hexosaminidase A.
2 2971039 The synthesis and dimerization of beta-chains during the formation of catalytically active beta-hexosaminidase B were studied in a cell-free system. beta-chain mRNA, transcribed from the cloned cDNA with SP6 polymerase, was translated in a rabbit reticulocyte protein-synthesizing system in the presence of dog pancreas microsomal membranes and oxidized glutathione.
3 6094290 Inhibition of insulin degrading activity (IDA) during chloroquine therapy was associated with reductions in the leukocyte lysosomal enzymes alpha-galactosidase and hexosaminidase-A but not hexosaminidase-B and beta-glucuronidase.
4 7550345 Through disruption of the Hexa and Hexb genes in embryonic stem cells, we have established mouse models corresponding to each disease.
5 7959736 Structure and expression of the mouse beta-hexosaminidase genes, Hexa and Hexb.
6 7959736 Two genes, HEXA and HEXB, encode the alpha- and beta-subunits, respectively, of human beta-hexosaminidase.
7 7959736 In the mouse, the corresponding genes are termed Hexa and Hexb.
8 7959736 Mutations in the HEXA or HEXB gene resulting in a beta-hexosaminidase deficiency cause Tay-Sachs or Sandhoff disease, respectively.
9 7959736 Protein sequences derived from the cloned Hexa and Hexb cDNAs were 55% identical to each other and were also very similar to the cognate human sequences: 84% sequence identity with human HEXA and 75% with HEXB.
10 7959736 The Hexa and Hexb genes were 25 and 22 kb in length, respectively.
11 7959736 Several putative promoter elements were present, including Sp1, AP2, CAAT, and TATA motifs.
12 7959736 Structure and expression of the mouse beta-hexosaminidase genes, Hexa and Hexb.
13 7959736 Two genes, HEXA and HEXB, encode the alpha- and beta-subunits, respectively, of human beta-hexosaminidase.
14 7959736 In the mouse, the corresponding genes are termed Hexa and Hexb.
15 7959736 Mutations in the HEXA or HEXB gene resulting in a beta-hexosaminidase deficiency cause Tay-Sachs or Sandhoff disease, respectively.
16 7959736 Protein sequences derived from the cloned Hexa and Hexb cDNAs were 55% identical to each other and were also very similar to the cognate human sequences: 84% sequence identity with human HEXA and 75% with HEXB.
17 7959736 The Hexa and Hexb genes were 25 and 22 kb in length, respectively.
18 7959736 Several putative promoter elements were present, including Sp1, AP2, CAAT, and TATA motifs.
19 7959736 Structure and expression of the mouse beta-hexosaminidase genes, Hexa and Hexb.
20 7959736 Two genes, HEXA and HEXB, encode the alpha- and beta-subunits, respectively, of human beta-hexosaminidase.
21 7959736 In the mouse, the corresponding genes are termed Hexa and Hexb.
22 7959736 Mutations in the HEXA or HEXB gene resulting in a beta-hexosaminidase deficiency cause Tay-Sachs or Sandhoff disease, respectively.
23 7959736 Protein sequences derived from the cloned Hexa and Hexb cDNAs were 55% identical to each other and were also very similar to the cognate human sequences: 84% sequence identity with human HEXA and 75% with HEXB.
24 7959736 The Hexa and Hexb genes were 25 and 22 kb in length, respectively.
25 7959736 Several putative promoter elements were present, including Sp1, AP2, CAAT, and TATA motifs.
26 7959736 Structure and expression of the mouse beta-hexosaminidase genes, Hexa and Hexb.
27 7959736 Two genes, HEXA and HEXB, encode the alpha- and beta-subunits, respectively, of human beta-hexosaminidase.
28 7959736 In the mouse, the corresponding genes are termed Hexa and Hexb.
29 7959736 Mutations in the HEXA or HEXB gene resulting in a beta-hexosaminidase deficiency cause Tay-Sachs or Sandhoff disease, respectively.
30 7959736 Protein sequences derived from the cloned Hexa and Hexb cDNAs were 55% identical to each other and were also very similar to the cognate human sequences: 84% sequence identity with human HEXA and 75% with HEXB.
31 7959736 The Hexa and Hexb genes were 25 and 22 kb in length, respectively.
32 7959736 Several putative promoter elements were present, including Sp1, AP2, CAAT, and TATA motifs.
33 7959736 Structure and expression of the mouse beta-hexosaminidase genes, Hexa and Hexb.
34 7959736 Two genes, HEXA and HEXB, encode the alpha- and beta-subunits, respectively, of human beta-hexosaminidase.
35 7959736 In the mouse, the corresponding genes are termed Hexa and Hexb.
36 7959736 Mutations in the HEXA or HEXB gene resulting in a beta-hexosaminidase deficiency cause Tay-Sachs or Sandhoff disease, respectively.
37 7959736 Protein sequences derived from the cloned Hexa and Hexb cDNAs were 55% identical to each other and were also very similar to the cognate human sequences: 84% sequence identity with human HEXA and 75% with HEXB.
38 7959736 The Hexa and Hexb genes were 25 and 22 kb in length, respectively.
39 7959736 Several putative promoter elements were present, including Sp1, AP2, CAAT, and TATA motifs.
40 7959736 Structure and expression of the mouse beta-hexosaminidase genes, Hexa and Hexb.
41 7959736 Two genes, HEXA and HEXB, encode the alpha- and beta-subunits, respectively, of human beta-hexosaminidase.
42 7959736 In the mouse, the corresponding genes are termed Hexa and Hexb.
43 7959736 Mutations in the HEXA or HEXB gene resulting in a beta-hexosaminidase deficiency cause Tay-Sachs or Sandhoff disease, respectively.
44 7959736 Protein sequences derived from the cloned Hexa and Hexb cDNAs were 55% identical to each other and were also very similar to the cognate human sequences: 84% sequence identity with human HEXA and 75% with HEXB.
45 7959736 The Hexa and Hexb genes were 25 and 22 kb in length, respectively.
46 7959736 Several putative promoter elements were present, including Sp1, AP2, CAAT, and TATA motifs.
47 8634145 Promoters for the human beta-hexosaminidase genes, HEXA and HEXB.
48 8634145 Human lysosomal beta-hexosaminidases are encoded by two genes, HEXA and HEXB, specifying an alpha- and a beta-subunit, respectively.
49 8634145 The subunits dimerize to form beta-hexosaminidase A (alpha beta), beta-hexosaminidase B (beta beta), and beta-hexosaminidase S (alpha alpha).
50 8634145 Mutations in either the HEXA gene or HEXB gene lead to an accumulation of GM2 ganglioside in neurons, resulting in the severe neurodegenerative disorders termed the GM2 gangliosidoses.
51 8634145 This area contained two potential estrogen response element half-sites as well as potential binding sites for transcription factors NF-E1 and AP-2.
52 8634145 By performing scanning mutagenesis on a 60-bp region within the 150-bp HEXB construct, we defined an essential promoter element of 12 bp that contained two potential AP-1 sites.
53 8634145 The mouse Hexa and Hexb 5'-flanking sequences were found to contain regions similar in sequence, location, and activity to the essential promoter elements defined in the cognate human genes.
54 8634145 No sequence similarity was found, however, between 5'-flanking regions of the HEXA and HEXB genes.
55 8634145 These essential promoter elements represent potential sites for HEXA and HEXB mutations that could alter enzyme expression in Tay-Sachs and Sandhoff diseases, respectively.
56 8634145 Promoters for the human beta-hexosaminidase genes, HEXA and HEXB.
57 8634145 Human lysosomal beta-hexosaminidases are encoded by two genes, HEXA and HEXB, specifying an alpha- and a beta-subunit, respectively.
58 8634145 The subunits dimerize to form beta-hexosaminidase A (alpha beta), beta-hexosaminidase B (beta beta), and beta-hexosaminidase S (alpha alpha).
59 8634145 Mutations in either the HEXA gene or HEXB gene lead to an accumulation of GM2 ganglioside in neurons, resulting in the severe neurodegenerative disorders termed the GM2 gangliosidoses.
60 8634145 This area contained two potential estrogen response element half-sites as well as potential binding sites for transcription factors NF-E1 and AP-2.
61 8634145 By performing scanning mutagenesis on a 60-bp region within the 150-bp HEXB construct, we defined an essential promoter element of 12 bp that contained two potential AP-1 sites.
62 8634145 The mouse Hexa and Hexb 5'-flanking sequences were found to contain regions similar in sequence, location, and activity to the essential promoter elements defined in the cognate human genes.
63 8634145 No sequence similarity was found, however, between 5'-flanking regions of the HEXA and HEXB genes.
64 8634145 These essential promoter elements represent potential sites for HEXA and HEXB mutations that could alter enzyme expression in Tay-Sachs and Sandhoff diseases, respectively.
65 8634145 Promoters for the human beta-hexosaminidase genes, HEXA and HEXB.
66 8634145 Human lysosomal beta-hexosaminidases are encoded by two genes, HEXA and HEXB, specifying an alpha- and a beta-subunit, respectively.
67 8634145 The subunits dimerize to form beta-hexosaminidase A (alpha beta), beta-hexosaminidase B (beta beta), and beta-hexosaminidase S (alpha alpha).
68 8634145 Mutations in either the HEXA gene or HEXB gene lead to an accumulation of GM2 ganglioside in neurons, resulting in the severe neurodegenerative disorders termed the GM2 gangliosidoses.
69 8634145 This area contained two potential estrogen response element half-sites as well as potential binding sites for transcription factors NF-E1 and AP-2.
70 8634145 By performing scanning mutagenesis on a 60-bp region within the 150-bp HEXB construct, we defined an essential promoter element of 12 bp that contained two potential AP-1 sites.
71 8634145 The mouse Hexa and Hexb 5'-flanking sequences were found to contain regions similar in sequence, location, and activity to the essential promoter elements defined in the cognate human genes.
72 8634145 No sequence similarity was found, however, between 5'-flanking regions of the HEXA and HEXB genes.
73 8634145 These essential promoter elements represent potential sites for HEXA and HEXB mutations that could alter enzyme expression in Tay-Sachs and Sandhoff diseases, respectively.
74 8634145 Promoters for the human beta-hexosaminidase genes, HEXA and HEXB.
75 8634145 Human lysosomal beta-hexosaminidases are encoded by two genes, HEXA and HEXB, specifying an alpha- and a beta-subunit, respectively.
76 8634145 The subunits dimerize to form beta-hexosaminidase A (alpha beta), beta-hexosaminidase B (beta beta), and beta-hexosaminidase S (alpha alpha).
77 8634145 Mutations in either the HEXA gene or HEXB gene lead to an accumulation of GM2 ganglioside in neurons, resulting in the severe neurodegenerative disorders termed the GM2 gangliosidoses.
78 8634145 This area contained two potential estrogen response element half-sites as well as potential binding sites for transcription factors NF-E1 and AP-2.
79 8634145 By performing scanning mutagenesis on a 60-bp region within the 150-bp HEXB construct, we defined an essential promoter element of 12 bp that contained two potential AP-1 sites.
80 8634145 The mouse Hexa and Hexb 5'-flanking sequences were found to contain regions similar in sequence, location, and activity to the essential promoter elements defined in the cognate human genes.
81 8634145 No sequence similarity was found, however, between 5'-flanking regions of the HEXA and HEXB genes.
82 8634145 These essential promoter elements represent potential sites for HEXA and HEXB mutations that could alter enzyme expression in Tay-Sachs and Sandhoff diseases, respectively.
83 8634145 Promoters for the human beta-hexosaminidase genes, HEXA and HEXB.
84 8634145 Human lysosomal beta-hexosaminidases are encoded by two genes, HEXA and HEXB, specifying an alpha- and a beta-subunit, respectively.
85 8634145 The subunits dimerize to form beta-hexosaminidase A (alpha beta), beta-hexosaminidase B (beta beta), and beta-hexosaminidase S (alpha alpha).
86 8634145 Mutations in either the HEXA gene or HEXB gene lead to an accumulation of GM2 ganglioside in neurons, resulting in the severe neurodegenerative disorders termed the GM2 gangliosidoses.
87 8634145 This area contained two potential estrogen response element half-sites as well as potential binding sites for transcription factors NF-E1 and AP-2.
88 8634145 By performing scanning mutagenesis on a 60-bp region within the 150-bp HEXB construct, we defined an essential promoter element of 12 bp that contained two potential AP-1 sites.
89 8634145 The mouse Hexa and Hexb 5'-flanking sequences were found to contain regions similar in sequence, location, and activity to the essential promoter elements defined in the cognate human genes.
90 8634145 No sequence similarity was found, however, between 5'-flanking regions of the HEXA and HEXB genes.
91 8634145 These essential promoter elements represent potential sites for HEXA and HEXB mutations that could alter enzyme expression in Tay-Sachs and Sandhoff diseases, respectively.
92 8634145 Promoters for the human beta-hexosaminidase genes, HEXA and HEXB.
93 8634145 Human lysosomal beta-hexosaminidases are encoded by two genes, HEXA and HEXB, specifying an alpha- and a beta-subunit, respectively.
94 8634145 The subunits dimerize to form beta-hexosaminidase A (alpha beta), beta-hexosaminidase B (beta beta), and beta-hexosaminidase S (alpha alpha).
95 8634145 Mutations in either the HEXA gene or HEXB gene lead to an accumulation of GM2 ganglioside in neurons, resulting in the severe neurodegenerative disorders termed the GM2 gangliosidoses.
96 8634145 This area contained two potential estrogen response element half-sites as well as potential binding sites for transcription factors NF-E1 and AP-2.
97 8634145 By performing scanning mutagenesis on a 60-bp region within the 150-bp HEXB construct, we defined an essential promoter element of 12 bp that contained two potential AP-1 sites.
98 8634145 The mouse Hexa and Hexb 5'-flanking sequences were found to contain regions similar in sequence, location, and activity to the essential promoter elements defined in the cognate human genes.
99 8634145 No sequence similarity was found, however, between 5'-flanking regions of the HEXA and HEXB genes.
100 8634145 These essential promoter elements represent potential sites for HEXA and HEXB mutations that could alter enzyme expression in Tay-Sachs and Sandhoff diseases, respectively.
101 8634145 Promoters for the human beta-hexosaminidase genes, HEXA and HEXB.
102 8634145 Human lysosomal beta-hexosaminidases are encoded by two genes, HEXA and HEXB, specifying an alpha- and a beta-subunit, respectively.
103 8634145 The subunits dimerize to form beta-hexosaminidase A (alpha beta), beta-hexosaminidase B (beta beta), and beta-hexosaminidase S (alpha alpha).
104 8634145 Mutations in either the HEXA gene or HEXB gene lead to an accumulation of GM2 ganglioside in neurons, resulting in the severe neurodegenerative disorders termed the GM2 gangliosidoses.
105 8634145 This area contained two potential estrogen response element half-sites as well as potential binding sites for transcription factors NF-E1 and AP-2.
106 8634145 By performing scanning mutagenesis on a 60-bp region within the 150-bp HEXB construct, we defined an essential promoter element of 12 bp that contained two potential AP-1 sites.
107 8634145 The mouse Hexa and Hexb 5'-flanking sequences were found to contain regions similar in sequence, location, and activity to the essential promoter elements defined in the cognate human genes.
108 8634145 No sequence similarity was found, however, between 5'-flanking regions of the HEXA and HEXB genes.
109 8634145 These essential promoter elements represent potential sites for HEXA and HEXB mutations that could alter enzyme expression in Tay-Sachs and Sandhoff diseases, respectively.
110 8634145 Promoters for the human beta-hexosaminidase genes, HEXA and HEXB.
111 8634145 Human lysosomal beta-hexosaminidases are encoded by two genes, HEXA and HEXB, specifying an alpha- and a beta-subunit, respectively.
112 8634145 The subunits dimerize to form beta-hexosaminidase A (alpha beta), beta-hexosaminidase B (beta beta), and beta-hexosaminidase S (alpha alpha).
113 8634145 Mutations in either the HEXA gene or HEXB gene lead to an accumulation of GM2 ganglioside in neurons, resulting in the severe neurodegenerative disorders termed the GM2 gangliosidoses.
114 8634145 This area contained two potential estrogen response element half-sites as well as potential binding sites for transcription factors NF-E1 and AP-2.
115 8634145 By performing scanning mutagenesis on a 60-bp region within the 150-bp HEXB construct, we defined an essential promoter element of 12 bp that contained two potential AP-1 sites.
116 8634145 The mouse Hexa and Hexb 5'-flanking sequences were found to contain regions similar in sequence, location, and activity to the essential promoter elements defined in the cognate human genes.
117 8634145 No sequence similarity was found, however, between 5'-flanking regions of the HEXA and HEXB genes.
118 8634145 These essential promoter elements represent potential sites for HEXA and HEXB mutations that could alter enzyme expression in Tay-Sachs and Sandhoff diseases, respectively.
119 8896570 The GM2 gangliosidoses, Tay-Sachs and Sandhoff diseases, are caused by mutations in the HEXA (alpha-subunit) and HEXB (beta-subunit) genes, respectively.
120 8896570 Each gene encodes a subunit for the heterodimeric lysosomal enzyme, beta-hexosaminidase A (alpha beta), as well as for the homodimers beta-hexosaminidase B (beta beta) and S (alpha alpha).
121 8896570 In this study, we have produced mice that have both Hexa and Hexb genes disrupted through interbreeding Tay-Sachs (Hexa-/-) and Sandhoff (Hexb-/-) disease model mice.
122 8896570 The GM2 gangliosidoses, Tay-Sachs and Sandhoff diseases, are caused by mutations in the HEXA (alpha-subunit) and HEXB (beta-subunit) genes, respectively.
123 8896570 Each gene encodes a subunit for the heterodimeric lysosomal enzyme, beta-hexosaminidase A (alpha beta), as well as for the homodimers beta-hexosaminidase B (beta beta) and S (alpha alpha).
124 8896570 In this study, we have produced mice that have both Hexa and Hexb genes disrupted through interbreeding Tay-Sachs (Hexa-/-) and Sandhoff (Hexb-/-) disease model mice.
125 8896570 The GM2 gangliosidoses, Tay-Sachs and Sandhoff diseases, are caused by mutations in the HEXA (alpha-subunit) and HEXB (beta-subunit) genes, respectively.
126 8896570 Each gene encodes a subunit for the heterodimeric lysosomal enzyme, beta-hexosaminidase A (alpha beta), as well as for the homodimers beta-hexosaminidase B (beta beta) and S (alpha alpha).
127 8896570 In this study, we have produced mice that have both Hexa and Hexb genes disrupted through interbreeding Tay-Sachs (Hexa-/-) and Sandhoff (Hexb-/-) disease model mice.
128 9223328 Tay-Sachs and Sandhoff diseases are caused by mutations in the genes (HEXA and HEXB) encoding the subunits of beta-hexosaminidase A.
129 9223328 We previously have described mouse models of Tay-Sachs (Hexa -/-) and Sandhoff (Hexb -/-) diseases with vastly different clinical phenotypes.
130 9223328 The Hexa -/- mice were asymptomatic whereas the Hexb -/- mice were severely affected.
131 9223328 Tay-Sachs and Sandhoff diseases are caused by mutations in the genes (HEXA and HEXB) encoding the subunits of beta-hexosaminidase A.
132 9223328 We previously have described mouse models of Tay-Sachs (Hexa -/-) and Sandhoff (Hexb -/-) diseases with vastly different clinical phenotypes.
133 9223328 The Hexa -/- mice were asymptomatic whereas the Hexb -/- mice were severely affected.
134 9223328 Tay-Sachs and Sandhoff diseases are caused by mutations in the genes (HEXA and HEXB) encoding the subunits of beta-hexosaminidase A.
135 9223328 We previously have described mouse models of Tay-Sachs (Hexa -/-) and Sandhoff (Hexb -/-) diseases with vastly different clinical phenotypes.
136 9223328 The Hexa -/- mice were asymptomatic whereas the Hexb -/- mice were severely affected.
137 16568991 A novel analogue of PUGNAc, a potent O-GlcNAcase inhibitor, was synthesized and analyzed as an inhibitor of O-GlcNAcase, hexosaminidase A, and hexosaminidase B.
138 16568991 While PUGNAc does not demonstrate selective inhibition of these related enzymes, the extension of the acetyl moiety to the longer butyl chain provided a compound with depressed inhibition of O-GlcNAcase and no observed inhibition of either hexosaminidase A or hexosaminidase B.
139 16568991 Gratifyingly, this altered small molecule was demonstrated to be a potent substrate for O-GlcNAcase while possessing no activity at hexosaminidase A.
140 16568991 This reagent provides, for the first time, a means for monitoring O-GlcNAcase activity independent of the related enzymes hexosaminidase A and hexosaminidase B.
141 16568991 A novel analogue of PUGNAc, a potent O-GlcNAcase inhibitor, was synthesized and analyzed as an inhibitor of O-GlcNAcase, hexosaminidase A, and hexosaminidase B.
142 16568991 While PUGNAc does not demonstrate selective inhibition of these related enzymes, the extension of the acetyl moiety to the longer butyl chain provided a compound with depressed inhibition of O-GlcNAcase and no observed inhibition of either hexosaminidase A or hexosaminidase B.
143 16568991 Gratifyingly, this altered small molecule was demonstrated to be a potent substrate for O-GlcNAcase while possessing no activity at hexosaminidase A.
144 16568991 This reagent provides, for the first time, a means for monitoring O-GlcNAcase activity independent of the related enzymes hexosaminidase A and hexosaminidase B.
145 16568991 A novel analogue of PUGNAc, a potent O-GlcNAcase inhibitor, was synthesized and analyzed as an inhibitor of O-GlcNAcase, hexosaminidase A, and hexosaminidase B.
146 16568991 While PUGNAc does not demonstrate selective inhibition of these related enzymes, the extension of the acetyl moiety to the longer butyl chain provided a compound with depressed inhibition of O-GlcNAcase and no observed inhibition of either hexosaminidase A or hexosaminidase B.
147 16568991 Gratifyingly, this altered small molecule was demonstrated to be a potent substrate for O-GlcNAcase while possessing no activity at hexosaminidase A.
148 16568991 This reagent provides, for the first time, a means for monitoring O-GlcNAcase activity independent of the related enzymes hexosaminidase A and hexosaminidase B.
149 21678470 In addition to previously reported differentially expressed molecules, more than 20 altered proteins previously unknown to be involved with adipogenic process were firstly revealed (e.g., HEXB, DPP7, PTTG1IP, PRDX5, EPDR1, SPNB2, STEAP3, TPP1, etc.).