View CYP21A2 gene homepage - Labor Staber Humangenetik

Labor Staber Humangenetik

cytochrome P450 family 21 subfamily A member 2 (CYP21A2)

LOVD v.3.0 Build 16 [ Current LOVD status ]
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Curator: Sabine Heber

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General information
Gene symbol	CYP21A2
Gene name	cytochrome P450 family 21 subfamily A member 2
Chromosome	6
Chromosomal band	p21.3
Imprinted	Unknown
Genomic reference	NG_007941.3
Transcript reference	NM_000500.7
Associated with diseases	CAH1
Citation reference(s)	-
Curators (1)	Sabine Heber
Total number of public variants reported	0
Unique public DNA variants reported	0
Individuals with public variants	0
Hidden variants	0
Date created	July 11, 2016

Links to other resources
HGNC	2600
Entrez Gene	1589
PubMed articles	CYP21A2
OMIM - Gene	613815
OMIM - Diseases	CAH1 (ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY)
HGMD	CYP21A2
GeneCards	CYP21A2
GeneTests	CYP21A2

Active transcripts

Legend

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ID	Chr	Name	NCBI ID	NCBI Protein ID	Variants
00000025	6	cytochrome P450, family 21, subfamily A, polypeptide 2, transcript variant 1	NM_000500.7	NP_000491.4	0

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