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CYP21A2 wt Allele

Known as: CYP21, CYP21B, CYP1ALPHA 
Human CYP21A2 wild-type allele is located in the vicinity of 6p21.3 and is approximately 3 kb in length. This allele, which encodes cytochrome P450… 
National Institutes of Health

Related topics

Related topics

13 relations
6p21.3Adrenal Cortical HyperplasiaCYP21A2 protein, humanCYP27B1 protein, human

Broader (1)

CYP21A2 gene

Papers overview

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2004
2004
Sonography in prenatal diagnosis of congenital adrenal hyperplasia
Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder with an incidence of 1/15 000. More than 90% of CAH cases… 
2003
2003
Mutation of IVS2 -12A/C>G in combination with 707-714delGAGACTAC in the CYP21 gene is caused by deletion of the C4-CYP21 repeat module with steroid 21-hydroxylase deficiency.
More than 90% of the cases of congenital adrenal hyperplasia are caused by mutations of the CYP21 gene. Approximately 75% of the… 
2002
2002
Physical mapping of the major histocompatibility complex class II and class III regions of the rat
Abstract. A contig of overlapping bacterial and P1-derived artificial chromosome (BAC, PAC) clones derived from the inbred rat… 
2000
2000
Analysis of the chimeric CYP21P/CYP21 gene in steroid 21-hydroxylase deficiency.
BACKGROUND A single nonfunctional chimeric gene with its 5' and 3' ends corresponding to CYP21P and CYP21, respectively, is… 
2000
2000
Mutational Analysis in Lebanese Patients with Congenital Adrenal Hyperplasia due to a Deficit in 21-Hydroxylase
Molecular defects in the gene encoding steroid 21-hydroxylase (CYP21) result in impairment of adrenal steroid synthesis in… 
1998
1998
Characterization of frequent polymorphisms in intron 2 of CYP21: application to analysis of segregation of CYP21 alleles.
The gene encoding adrenal steroid 21-hydroxylase, CYP21, is located in the MHC class III region. Most cases of congenital adrenal… 
Highly Cited
1997
Highly Cited
1997
Mutation-haplotype analysis of steroid 21-hydroxylase (CYP21) deficiency in Finland. Implications for the population history of defective alleles
Abstract Congenital adrenal hyperplasia (CAH) due to steroid 21-hydroxylase deficiency is a common inherited defect of adrenal… 
1997
1997
Steroid 21-hydroxylase expression and activity in human lymphocytes
1993
1993
Identification of promoter elements in the mouse 21-hydroxylase (Cyp21) gene that require a functional cyclic adenosine 3',5'-monophosphate-dependent protein kinase.
The constitutive and cAMP-induced expression of the mouse steroid 21-hydroxylase gene (Cyp21) are impaired in adrenal cell… 
1989
1989
Analysis of mutations causing steroid 21-hydroxylase deficiency.
Steroid 21-hydroxylase deficiency is the most frequent cause of congenital adrenal hyperplasia, an inherited inability to… 
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