CYP21A2 Chromosome 6
Cytochrome P450 family 21 subfamily A member 2
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What This Gene Does
This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and hydroxylates steroids at the 21 position. Its activity is required for the synthesis of steroid hormones including cortisol and aldosterone. Mutations in this gene cause congenital adrenal hyperplasia. A related pseudogene is located near this gene; gene conversion events involving the functional gene and the pseudogene are thought to account for many cases of steroid 21-hydroxylase deficiency. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Cytochrome P450 family 21
Locus Type
gene with protein product
Location
6p21.33
Ensembl
ENSG00000231852
Associated Conditions (17)
ADRENAL HYPERPLASIA
CONGENITAL
DUE TO 21-HYDROXYLASE DEFICIENCY
Congenital adrenal hyperplasia
Hyperandrogenism
nonclassic type
due to 21-hydroxylase deficiency
Inborn genetic diseases
CYP21A2-related disorder
See cases
Ovarian serous cystadenocarcinoma
Congenital lipoid adrenal hyperplasia due to STAR deficency
Carcinoma
adrenocortical
androgen-secreting
Adenoma
cortisol-producing
Key Variants
RS12530380
Conflicting classifications of pathogenicity
ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY
Health Risk
RS143240527
Conflicting classifications of pathogenicity
ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY
Health Risk
RS144029176
Conflicting classifications of pathogenicity
ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY
Health Risk
RS151344505
Conflicting classifications of pathogenicity
ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY
Health Risk
RS1776217797
Conflicting classifications of pathogenicity
ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY
Health Risk
RS1776309065
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS193922544
Conflicting classifications of pathogenicity
Congenital adrenal hyperplasia, CYP21A2-related disorder, ADRENAL HYPERPLASIA
Health Risk
RS193922545
Conflicting classifications of pathogenicity
Health Risk
RS193922546
Conflicting classifications of pathogenicity
Congenital adrenal hyperplasia, Congenital adrenal hyperplasia
Health Risk
RS202242769
Conflicting classifications of pathogenicity
ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY
Health Risk
RS371412889
Conflicting classifications of pathogenicity
ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY
Health Risk
RS376035565
Conflicting classifications of pathogenicity
CYP21A2-related disorder, ADRENAL HYPERPLASIA, CONGENITAL
Health Risk
All Variants (113)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1554304513 | Health Risk | Pathogenic/Likely pathogenic | ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY |
| RS1554305880 | Health Risk | Pathogenic/Likely pathogenic | ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY |
| RS1775988406 | Health Risk | Pathogenic/Likely pathogenic | ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY |
| RS1776234662 | Health Risk | Pathogenic/Likely pathogenic | ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY |
| RS1776323909 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS200005406 | Health Risk | Pathogenic/Likely pathogenic | Congenital adrenal hyperplasia, ADRENAL HYPERPLASIA, CONGENITAL |
| RS397509367 | Health Risk | Pathogenic/Likely pathogenic | ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY |
| RS6471 | Health Risk | Pathogenic/Likely pathogenic | ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY |
| RS72552758 | Health Risk | Pathogenic/Likely pathogenic | ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY |
| RS770199817 | Health Risk | Pathogenic/Likely pathogenic | ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY |
| RS776989258 | Health Risk | Pathogenic/Likely pathogenic | ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY |
| RS779144910 | Health Risk | Pathogenic/Likely pathogenic | ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY |
| RS781074931 | Health Risk | Pathogenic/Likely pathogenic | Congenital adrenal hyperplasia, Congenital adrenal hyperplasia |