Ignet

Gene Information

Gene symbol: CYP21A2

Gene name: cytochrome P450, family 21, subfamily A, polypeptide 2

HGNC ID: 2600

Synonyms: P450c21B, CA21H, CPS1, CAH1

Related Genes

#	Gene Symbol	Number of hits
1	AVP	1 hits
2	C2	1 hits
3	CASR	1 hits
4	CD79A	1 hits
5	CDKN1C	1 hits
6	CNC	1 hits
7	CRHR1	1 hits
8	CXCL10	1 hits
9	CYP11A1	1 hits
10	CYP11B2	1 hits
11	CYP17A1	1 hits
12	CYP21A1P	1 hits
13	CYP2B6	1 hits
14	CYP2D6	1 hits
15	CYP3A5	1 hits
16	DDC	1 hits
17	FOXP3	1 hits
18	GAD2	1 hits
19	HFE	1 hits
20	HLA-A	1 hits
21	HLA-DOB	1 hits
22	HPT	1 hits
23	HSD3B2	1 hits
24	IDDM2	1 hits
25	INS	1 hits
26	LDLR	1 hits
27	LEP	1 hits
28	MKKS	1 hits
29	MN1	1 hits
30	POMC	1 hits
31	POR	1 hits
32	PRL	1 hits
33	PTPRN	1 hits
34	SLC26A3	1 hits
35	SOX13	1 hits
36	STAR	1 hits
37	TBXAS1	1 hits
38	TG	1 hits
39	TGM2	1 hits
40	TH	1 hits
41	TOP1	1 hits
42	TPH1	1 hits
43	TPO	1 hits

Related Sentences

#	PMID	Sentence
1	2247884	Digestion was performed with the enzymes Sst II, Mlu I, and Pvu I and hybridization with 21-hydroxylase, DRA, DQB, DOB and DPA probes.
2	3007340	Rearrangement of 21-hydroxylase genes in disease-associated MHC supratypes.
3	3007340	Evidence is provided for deletions of 21A on the B8, C4AQ0, C4B1, BfS, DR3 and B18, C4A3, C4BQ0, BfF1, DR3 supratypes and a duplication of 21A on the B14, C4A2, C4B1/B2, BfS supratype.
4	3386237	Mitochondrial cytochrome P-450 concentrations were not affected by diabetes but steroid 11 beta-hydroxylase activity was greater in the diabetics than in controls after both 1 and 2 months.
5	3386237	Microsomal cytochrome P-450 concentrations were unaffected by diabetes but 21-hydroxylase activity was significantly lower in adrenal microsomes from diabetics than from controls.
6	3493006	The human major histocompatibility complex (MHC)-linked genes C2,BF,C4A,C4B occur in populations and segregate in families as single genetic units or complotypes.
7	3493006	We refer to the HLA-B/DR/complotype sets with significant linkage disequilibrium as extended haplotypes since they often show limited variation at other MHC-linked loci.
8	3493006	From the study of MHC haplotypes in 21-hydroxylase deficiency, C2 deficiency and type 1 diabetes, it is becoming apparent that it is extended haplotypes rather than their individual alleles that are markers for these MHC-associated diseases.
9	6339368	Among the conditions which have been shown to be HLA-associated more recently, four deserves special mention: (i) maternal immunization against the Zwa antigen because this is a good candidate for an antigen-specific Ir gene action; (ii) IgA deficiency in blood donors because this is a non-antigen-specific immunodeficiency; (iii) idiopathic hemochromatosis and (iv) congenital adrenal hyperplasia due to 21-OH deficiency because immune mechanisms are unlikely to be involved.
10	6339368	HLA plays a definite and strong role in the susceptibility to IDDM, but simple genetic models (dominant, recessive, and intermediate) have been made unlikely on the basis of HLA results; the hypothesis that there are two different susceptibility genes within the HLA system still remains viable, but the demonstration of clinical heterogeneity and/or (better) of different pathogenetic pathways for DR3- and DR4-associated IDDM is required to substantiate it.
11	6412616	That supratypes may have important biological functions is drawn from studies in complement C2 deficiency and 21-hydroxylase deficiency.
12	6975592	[21-hydroxylase deficit revealed by hyperkalemia in the absence of renal failure in an insulin-dependent diabetic (author's transl)].
13	6975592	The various causes of hyperkalemia in the absence of renal failure in insulin-dependent diabetes are discussed, notably the renin deficiency hypoaldosteronism syndrome.
14	6975592	This is a new observation in the diabetic, and is apparently a coincidental association since deficits in 21-hydroxylase are not usually associated with insulin-dependent diabetes.
15	6975592	[21-hydroxylase deficit revealed by hyperkalemia in the absence of renal failure in an insulin-dependent diabetic (author's transl)].
16	6975592	The various causes of hyperkalemia in the absence of renal failure in insulin-dependent diabetes are discussed, notably the renin deficiency hypoaldosteronism syndrome.
17	6975592	This is a new observation in the diabetic, and is apparently a coincidental association since deficits in 21-hydroxylase are not usually associated with insulin-dependent diabetes.
18	7959616	With increasing ease, mutations such as deletions, expansions, rearrangements and point mutations can be detected in diseases such as congenital adrenal hyperplasia, cystic fibrosis, diabetes insipidus, growth hormone deficiency, fragile X syndrome, Laron dwarfism and Turner syndrome.
19	8034294	We have defined the mutations causing congenital adrenal hyperplasia in three Swedish patients carrying a rare haplotype containing two mutated steroid 21-hydroxylase genes (CYP21) in addition to one pseudogene (CYP21P).
20	8444215	Hydrometrocolpos following prenatal dexamethasone treatment for congenital adrenal hyperplasia (21-hydroxylase deficiency).
21	8867587	The 21-hydroxylase locus has a complicated structure, with a highly homologous pseudogene (CYP21P) and an active gene (CYP21) in tandem repeats, a high degree of interindividual variation in gene copy numbers, and exchange of sequences between CYP21P and CYP21.
22	9000040	Steroid 21-hydroxylase autoantibodies in insulin-dependent diabetes mellitus.
23	9000040	We have studied the sera from 304 patients with insulin-dependent diabetes mellitus (IDDM) for steroid 21-hydroxylase (P450c21) autoantibodies by an in vitro translation and immunoprecipitation assay.
24	9000040	When the IDDM patients with P450c21 antibodies were analyzed for their HLA, 6 of them (86%) belonged to the HLA DQB1*0201-positive group.
25	9000040	Steroid 21-hydroxylase autoantibodies in insulin-dependent diabetes mellitus.
26	9000040	We have studied the sera from 304 patients with insulin-dependent diabetes mellitus (IDDM) for steroid 21-hydroxylase (P450c21) autoantibodies by an in vitro translation and immunoprecipitation assay.
27	9000040	When the IDDM patients with P450c21 antibodies were analyzed for their HLA, 6 of them (86%) belonged to the HLA DQB1*0201-positive group.
28	9030873	The diagnostic specificity of recombinant 21-hydroxylase autoantibodies (21OH-Ab) for Addison's disease was tested in adult patients with either Graves' disease (GD), insulin-dependent diabetes mellitus (IDDM), or polyendocrinopathy, as well as in healthy controls.
29	9794898	The first patient had insulin-dependent diabetes (IDDM), and the second patient had Addison's disease and hypoparathyroidism, and is also positive for islet cell antibodies, without overt diabetes.
30	9794898	Our database search identified two proteins, carboxypeptidase H, an autoantigen in insulin-dependent diabetes, and 21-hydroxylase, the major autoantigen in Addison's disease, that share sequence similarity to the second major LKM1 epitope on CYP2D6.
31	9794898	We found that reactivity to the second major epitope of CYP2D6 is significantly associated with reactivity to the homologous regions of carboxypeptidase H (CPH) and 21-hydroxylase (21-OHase) in patients with LKM1 AIH, and that this simultaneous recognition is cross-reactive.
32	9794898	The first patient had insulin-dependent diabetes (IDDM), and the second patient had Addison's disease and hypoparathyroidism, and is also positive for islet cell antibodies, without overt diabetes.
33	9794898	Our database search identified two proteins, carboxypeptidase H, an autoantigen in insulin-dependent diabetes, and 21-hydroxylase, the major autoantigen in Addison's disease, that share sequence similarity to the second major LKM1 epitope on CYP2D6.
34	9794898	We found that reactivity to the second major epitope of CYP2D6 is significantly associated with reactivity to the homologous regions of carboxypeptidase H (CPH) and 21-hydroxylase (21-OHase) in patients with LKM1 AIH, and that this simultaneous recognition is cross-reactive.
35	10376448	Autoantibodies to adrenal cytochrome P450 antigens in isolated Addison's disease and autoimmune polyendocrine syndrome type II.
36	10376448	Adrenal P450 enzymes 21-hydroxylase (21OH), 17alpha-hydroxylase (17OH) and side chain cleavage enzyme (SCC) represent major target antigens in adrenal autoimmunity.
37	10433061	Mutations in the StAR gene have been shown to be the only cause of the potentially fatal disease, lipoid congenital adrenal hyperplasia, in which the affected individual can synthesize virtually no steroids.
38	10899497	Prevalence of 21-hydroxylase-deficient nonclassic adrenal hyperplasia and insulin resistance among hirsute women from Puerto Rico.
39	11170094	PE due to virilizing-type adrenal hyperplasia, caused by common mutations in the genes encoding for the adrenal enzymes 21-hydroxylase and 11-hydroxylase, was ruled out.
40	11223374	In patients with the rare, recessively inherited type 1 APS (APS-1), characterized by the triad of chronic mucocutaneous moniliasis, hypoparathyroidism, and Addison's disease, primary amenorrhea (elevated pituitary gonadotropins) or oligomenorrhea and infertility are constant features.
41	11223374	These autoantibodies react with 3 P450 enzymes involved with steroidogenesis, namely, 21-hydroxylase (adrenal specific), 17 alpha-hydroxylase, and the side chain cleavage enzyme.
42	12021109	This study attempts to assess the prevalence of various autoantibodies in early-onset diabetics in northern India, with emphasis on antibodies against glutamic acid decarboxylase (GAD65), IA-2, ICA-12, 21-hydroxylase (21-OH), and tissue transglutaminase (TTG).
43	12021109	GAD65 and IA-2 antibodies were found to be present in approximately 26% of cases of type 1 diabetes.
44	12021119	Autoantibodies against glutamic acid decarboxylase (GAD65) and protein tyrosine phosphatase (IA-2) among patients with clinically diagnosed NIDDM identify group of patients with slow-onset type 1 diabetes or LADA.
45	12021119	One hundred NIDDM patients and 100 healthy controls were tested for GAD65 and IA-2 autoantibodies as well as 21-hydroxylase (21-OH) and tissue transglutaminase (TTG) antibodies by RIA assay.
46	12021119	GAD65 antibodies were found in 30 of 100 (30%) and IA-2 antibodies in 40 of 100 (40%) patients.
47	12021119	Either GAD65 or IA-2 antibodies were found in 55 of 100 (55%).
48	12021124	Autoantibodies against glutamic acid decarboxylase (GAD65) and tyrosine phosphatase (IA-2) are strongly associated with autoimmune diabetes and can be useful in early identification of the development of type 1 diabetes in women with GDM.
49	12021124	The aim of our study was to estimate the prevalence of autoantibodies against minor antigens-tissue transglutaminase (TTG), ICA12, and 21-hydroxylase (21-0H)-in GDM patients from southern India.
50	12021124	Eighty-six serum samples from GDM subjects and 114 samples from healthy controls were tested for the presence of GAD65 and IA-2Ab as well as for the presence of 21-OH, TTG, and ICA12Ab by radiobinding assay with in vitro translated recombinant human 35S-GAD65, IA-2, TTG, ICA12, and 21-OH antigens.
51	12021124	We observed the presence of GAD65 or IA-2 autoantibodies in 41% (35/86) of GDM patients, while none of the patients tested positive for any of the minor autoantibodies.
52	12092456	The autoimmune polyendocrine syndrome type II (APS-II) is characterized by the association of autoimmune Addison's disease with thyroid autoimmune diseases or type-1 diabetes mellitus. 21-Hydroxylase autoantibodies enable the accurate diagnosis of autoimmune Addison's disease and, in patients with other endocrine autoimmune diseases, identify subjects at high risk for clinical adrenal insufficiency. 17 alpha-Hydroxylase (17OH) and side-chain-cleavage enzyme (P450scc) are target autoantigens of steroid-cell autoantibodies, and in women with Addison's disease, 17OH autoantibodies and P450scc autoantibodies are markers of increased risk for premature ovarian failure.
53	12092456	Thyroperoxidase autoantibodies, thyroglobulin autoantibodies, H+/K(+)-ATPase autoantibodies, and GAD65 autoantibodies are frequently detected in patients with isolated Addison's or APS-II.
54	12208672	Further analysis in ACTH-stimulated bovine adrenal cells using stable isotope dilution/gas chromatography-mass spectrometry demonstrated CLO-induced inhibition of adrenal 21-hydroxylase (P450c21) activity leading to a dose-dependent increase in the 17-OH-progesterone/11-deoxycortisol ratio.
55	12738163	The most common cause of androgen excess is the polycystic ovary syndrome (PCOS), with 21-hydroxylase-deficient nonclassic adrenal hyperplasia, the hyperandrogenic insulin-resistant acanthosis nigricans syndrome, androgen-secreting tumors, and androgenic drug intake occurring less frequently.
56	14764761	The prevalence of autoantibodies against nine intracellular enzyme autoantigens, namely 21-hydroxylase, side-chain cleavage enzyme (SCC), 17 alpha-hydroxylase, glutamic acid decarboxylase 65, aromatic L-amino acid decarboxylase, tyrosine phosphatase-like protein IA-2, tryptophan hydroxylase (TPH), tyrosine hydroxylase, cytochrome P450 1A2, and against the extracellular calcium-sensing receptor, was assessed in 90 patients with autoimmune polyendocrine syndrome type I.
57	14764761	Autoantibodies against tyrosine phosphatase-like protein IA-2 were associated with insulin-dependent diabetes mellitus with an OR of 14.9, but with low sensitivity.
58	15024892	Her TSH and prolactin were normal, and as her presentation was not suggestive of an adrenal tumor or congenital adrenal hyperplasia (she had mild hirsutism, and those diagnoses are associated with more severe hyperandrogenism), no further laboratory evaluation was deemed necessary.
59	15031776	Twelve women with polycystic ovary syndrome (PCOS), 10 women with idiopathic hirsutism (IH), and 10 women with late onset adrenal hyperplasia due to 21-hydroxylase deficiency (LOCAH) were studied.
60	15031776	The decrease in aMT6s excretion together with reduced serum LH, FSH, DHEAS and testosterone values during treatment with cyproterone acetate-ethinyl estradiol, suggest that sex steroids either directly or through the suppression of gonadotropins, modulate melatonin secretion in these patients.
61	15128476	Primary aldosteronism, congenital adrenal hyperplasia, Cushing's syndrome, glucocorticoid-remediable aldosteronism, and corticotropin-dependent forms of adrenal pathology can cause hypertension by excessive production of adrenocortical hormones.
62	15251586	Meningioma in congenital adrenal hyperplasia.
63	15286835	Deficiencies in C4 allotypes have been associated with Mycobacterium leprae infection, erythema nodosum, systemic sclerosis with anti-topoisomerase I antibodies, intermediate congenital adrenal hyperplasia with DR5 genotype, diabetes mellitus type 1 with DR3,4 genotype, and diabetes mellitus with antibodies against islet cells.
64	15286835	Some reports associate C4A with thyroiditis after delivery as well as limited and systemic sclerosis without anti-topoisomerase I antibodies.
65	15463866	In this report we describe the first report on cystic fibrosis in association with other diseases in the same patient such as sickle cell disease, Insulin dependant Diabetes mellitus, congenital adrenal hyperplasia, cardiac anomalies in twins and Ehler's Danlos syndrome.
66	15505757	Medical history, physical examination, and basal levels of free testosterone (fT), androstenedione, follicle-stimulating hormone (FSH), luteinizing hormone (LH), dehydroepiandrosterone-sulphate (DHEAS), 17 hydroxyprogesterone (17-OHP), 11-deoxycortisol (11-S), thyroid hormones, thyroid stimulating hormone (TSH), and prolactin were determined.
67	15505757	ACTH stimulation test was performed for the diagnosis of non-classic congenital adrenal hyperplasia (NCAH).
68	15657375	Elevated serum interferon-gamma-inducible chemokine-10/CXC chemokine ligand-10 in autoimmune primary adrenal insufficiency and in vitro expression in human adrenal cells primary cultures after stimulation with proinflammatory cytokines.
69	15657375	No relationship was found between serum CXCL10 levels and anti-21-hydroxylase or adrenal cortex autoantibody titers or between CXCL10 levels and duration of disease.
70	15657375	CXCL10, although not basally detected in cultured hZFC, was strongly induced by interferon-gamma and synergistically increased by TNF-alpha addition.
71	15993578	Mesangial cells expressed the mRNA of the LDL receptor and steroidogenic enzymes, such as P450scc, 3beta-hydroxysteroid dehydrogenase (3beta-HSD), 21-hydroxylase and CYP11B2.
72	16199893	Mouse models of adrenal cortical dysfunction, such as the targeted disruption of the 21-hydroxylase- or the CRHR1 genes, show alterations in chromaffin cell function, while disruption of tyrosine hydroxylase, a key enzyme in catecholamine synthesis, impairs adrenal cortical function.
73	16480676	Primary aldosteronism, congenital adrenal hyperplasia, Cushing's syndrome, glucocorticoid-remediable aldosteronism, and corticotropin-dependent forms of adrenal pathology can cause hypertension by excessive production of adrenocortical hormones.
74	16636975	Absence of exercise-induced leptin suppression associated with insufficient epinephrine reserve in patients with classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
75	19471237	These syndromes and diseases include the Carney complex, the McCune-Albright syndrome, multiple endocrine neoplasia type 1, familial adenomatosis coli, congenital adrenal hyperplasia, familial forms of primary aldosteronism, the Beckwith-Wiedemann syndrome, and the Li-Fraumeni syndrome.
76	19565027	Defects in this steroidogenic enzyme, the product of the CYP21A2 gene, cause disruption in the pathway involved in cortisol and aldosterone production and consequently, the accumulation of their steroid precursors as well as a resulting adrenocorticotrophic hormone (ACTH)-driven overproduction of adrenal androgens.
77	20806187	Hair loss may accompany several endocrine disorders, including hypopituitarism, hypothyreosis, hyperthyreosis, hypoparathyroidism, diabetes mellitus, growth hormone deficiency, hyperprolactinaemia, polycystic ovary syndrome, SAHA syndrome, congenital adrenal hyperplasia, Cushing syndrome, or virilising tumours.
78	21190981	Pubertal presentation in seven patients with congenital adrenal hyperplasia due to P450 oxidoreductase deficiency.
79	22020670	Molecular analysis of CYP21A2 was performed, via the multiplex ligation-dependent probe amplification (MLPA) analysis and sequence-specific differenzial PCR amplification of the CYP21A2 and CYP21A1P genes, using 4 pair-wise sequence-specific primers, followed by sequencing of the entire CYP21A2 gene.
80	22101210	The activities of both cytochrome P450 17α-hydroxylase/17,20 lyase and cytochrome P450 21-hydroxylase were significantly inhibited in COS-1 cells.
81	22101210	Quantification of 11βOH-A4 showed this metabolite to be a major product of steroidogenesis in H295R cells and we confirm, for the first time, that this steroid metabolite is the product of the hydroxylation of A4 by human cytochrome P450 11β-hydroxylase.
82	22125108	Hair loss may accompany several endocrine disorders, including hypopituitarism, hypothyreosis, hyperthyreosis, hypoparathyroidism, diabetes mellitus, growth hormone deficiency, hyperprolactinaemia, polycystic ovary syndrome, SAHA syndrome, congenital adrenal hyperplasia, Cushing syndrome, or virilising tumours.
83	22162478	Genotype-phenotype analysis in congenital adrenal hyperplasia due to P450 oxidoreductase deficiency.
84	22343390	A novel homozygous Q334X mutation in the HSD3B2 gene causing classic 3β-hydroxysteroid dehydrogenase deficiency: an unexpected diagnosis after a positive newborn screen for 21-hydroxylase deficiency.
85	22707647	Other findings included an absent cortisol response to corticotropin stimulation, presence of serum anti-21-hydroxylase antibodies, and mononuclear cell infiltration--consistent with adrenalitis.
86	23365120	Prenatal diagnosis of congenital adrenal hyperplasia caused by P450 oxidoreductase deficiency.
87	23480181	The PTPN22 1858T allele but not variants in the proximal promoter region of IL-21 gene is associated with the susceptibility to type 1 diabetes and the presence of autoantibodies in a Brazilian cohort.
88	23480181	Interleukin (IL)-21 and protein tyrosine phosphatase non-receptor 22 (PTPN22) regulate lymphocyte function and have been implicated in the pathogenesis of autoimmune diabetes.
89	23480181	We sequenced the proximal promoter of the IL-21 gene for the first time and analysed the PTPN22 1858T polymorphism in type 1A diabetes (T1AD) patients and healthy controls (HC).
90	23480181	We also evaluated human leucocyte antigen (HLA) DR3/DR4 alleles.
91	23480181	The frequencies of glutamic acid decarboxylase (GAD65), tyrosine phosphatase-like protein (IA)-2, anti-nuclear antibody (ANA), thyroid peroxidase (TPO), thyroglobulin (TG), thyrotrophin receptor autoantibody (TRAb), anti-smooth muscle (ASM) and 21-hydroxylase (21-OH) autoantibodies were higher in T1AD patients than in HC.
92	23480181	The PTPN22 1858T allele was associated with an increased risk for developing T1AD [odds ratio (OR) = 1·94; P < 0·001], particularly in patients of European ancestry, and with a higher frequency of GAD65 and TG autoantibodies.
93	23480181	In conclusion, only PTPN22 C1858T polymorphism and HLA-DR3 and/or DR4 alleles, but not allelic variants in the 5'-proximal region of the IL-21 gene were associated with T1AD risk.
94	23480181	The C1858T PTPN22 polymorphism was also associated with a higher frequency of GAD65 and TG autoantibodies.