Ignet

Gene Information

Gene symbol: ARL6

Gene name: ADP-ribosylation factor-like 6

HGNC ID: 13210

Related Genes

#	Gene Symbol	Number of hits
1	BBS1	1 hits
2	BBS2	1 hits
3	BBS4	1 hits
4	BBS5	1 hits
5	BBS7	1 hits
6	MCHR1	1 hits
7	MKKS	1 hits
8	TTC8	1 hits

Related Sentences

#	PMID	Sentence
1	11381270	Six distinct BBS loci map to 11q13 (BBS1), 16q21 (BBS2), 3p13-p12 (BBS3), 15q22.3-q23 (BBS4), 2q31 (BBS5), and 20p12 (BBS6).
2	11381270	MKKS has sequence homology to the alpha subunit of a prokaryotic chaperonin in the thermosome Thermoplasma acidophilum.
3	11381270	Here we report the positional cloning and identification of mutations in BBS patients in a novel gene designated BBS4.
4	12524598	BBS is known to map to at least six loci: 11q13 (BBS1), 16q21 (BBS2), 3p13-p12 (BBS3), 15q22.3-q23 (BBS4), 2q31 (BBS5), and 20p12 (BBS6).
5	12524598	Although these loci were all mapped on the basis of an autosomal recessive mode of inheritance, it has recently been suggested-on the basis of mutation analysis of the identified BBS2, BBS4, and BBS6 genes-that BBS displays a complex mode of inheritance in which, in some families, three mutations at two loci are necessary to manifest the disease phenotype.
6	12524598	In the present study we evaluate the involvement of the BBS1 gene in a cohort of 129 probands with BBS and report 10 novel BBS1 mutations.
7	15666242	A mutation of the BBS1 gene on chromosome 11q13 is observed in 30%-40% of BBS cases.
8	15666242	In six cases, we identified a recessive mutation in a BBS gene (three in BBS2, two in BBS4, and one in BBS6).
9	15666242	No BBS1, BBS3, BBS5, BBS7, or BBS8 mutations were identified in our series.
10	15666242	These results suggest that the antenatal presentation of BBS may mimic Meckel syndrome.
11	22139371	Here we developed a Bbs3 knockout model and demonstrate that Bbs3(-/-) mice develop BBS-associated phenotypes, including retinal degeneration, male infertility, and increased body fat.
12	22139371	Interestingly, Bbs3(-/-) mice develop some unique phenotypes not seen in other BBS knockout models: no overt obesity, severe hydrocephalus, and elevated blood pressure (shared by some but not all BBS gene knockout mice).
13	22139371	Loss of Bbs3 does not affect BBSome formation but disrupts normal localization of melanin concentrating hormone receptor 1 to ciliary membranes and affects retrograde transport of Smoothened inside cilia.
14	22139371	Here we developed a Bbs3 knockout model and demonstrate that Bbs3(-/-) mice develop BBS-associated phenotypes, including retinal degeneration, male infertility, and increased body fat.
15	22139371	Interestingly, Bbs3(-/-) mice develop some unique phenotypes not seen in other BBS knockout models: no overt obesity, severe hydrocephalus, and elevated blood pressure (shared by some but not all BBS gene knockout mice).
16	22139371	Loss of Bbs3 does not affect BBSome formation but disrupts normal localization of melanin concentrating hormone receptor 1 to ciliary membranes and affects retrograde transport of Smoothened inside cilia.
17	22139371	Here we developed a Bbs3 knockout model and demonstrate that Bbs3(-/-) mice develop BBS-associated phenotypes, including retinal degeneration, male infertility, and increased body fat.
18	22139371	Interestingly, Bbs3(-/-) mice develop some unique phenotypes not seen in other BBS knockout models: no overt obesity, severe hydrocephalus, and elevated blood pressure (shared by some but not all BBS gene knockout mice).
19	22139371	Loss of Bbs3 does not affect BBSome formation but disrupts normal localization of melanin concentrating hormone receptor 1 to ciliary membranes and affects retrograde transport of Smoothened inside cilia.