CYP21A2 - cytochrome P450 family 21 subfamily A member 2 Gene
Also Known as CAH1; CPS1; CA21H; CYP21; CYP21B; P450c21B
Species: Homo sapiens
About CYP21A2
This gene has 15 transcripts (splice variants), 1 gene allele, 176 orthologues and is associated with 4 phenotypes. Restricted expression toward adrenal (RPKM 498.8).
Summary
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]
CYP21A2 Products (4)
| mRNA | Protein | Name |
|---|---|---|
| NM_000500.9 | NP_000491.4 | steroid 21-hydroxylase isoform a |
| NM_001128590.4 | NP_001122062.3 | steroid 21-hydroxylase isoform b |
| NM_001368143.2 | NP_001355072.1 | steroid 21-hydroxylase isoform c |
| NM_001368144.2 | NP_001355073.1 | steroid 21-hydroxylase isoform c |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables 17-hydroxyprogesterone 21-hydroxylase activity |
IDA
IDA: Inferred from direct assay
|
25855791 | GOA |
| enables heme binding |
IDA
IDA: Inferred from direct assay
|
25855791 | GOA |
| enables progesterone 21-hydroxylase activity |
IDA
IDA: Inferred from direct assay
|
25855791 | GOA |
| enables steroid hydroxylase activity |
IMP
IMP: Inferred from mutant phenotype
|
16984992 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in steroid biosynthetic process |
IDA
IDA: Inferred from direct assay
|
25855791 | GOA |
| involved in steroid metabolic process |
IMP
IMP: Inferred from mutant phenotype
|
16984992 | GOA |
CYP21A2 Protein Structure
p450: Cytochrome P450 (48 - 478)
- 0
- 100
- 200
- 300
- 400
- 494 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
steroid 21-hydroxylase |
|
Recombinant CYP21A2 Proteins
| Cat. No. | Product Name | Accession | Purity |
|---|---|---|---|
| HY-P71728 | CYP21A2 Protein, Human (P.pastoris, His) | P08686 (M1-Q494) | ≥ 90%, as determined by reducing SDS-PAGE. |
| HY-P72164 | CYP21A2 Protein, Human (His) | P08686 (M1-Q494) | ≥ 90%, as determined by reducing SDS-PAGE. |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
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| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency, Simple Virilizing Form |
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| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency, Salt Wasting Form |
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| Lipoid Congenital Adrenal Hyperplasia |
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| Adrenogenital Syndrome |
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| Luteoma |
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| Adrenal Rest Tumor |
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| Antley-Bixler Syndrome |
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| Hyperandrogenism |
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| Adrenal Carcinoma |
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| Conn'S Syndrome |
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| Leydig Cell Tumor |
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| Precocious Puberty |
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| Steroid Inherited Metabolic Disorder |
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| Adrenal Adenoma |
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| Polycystic Ovary Syndrome |
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| Acute Adrenal Insufficiency |
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| Mixed Gonadal Dysgenesis |
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| Cortisone Reductase Deficiency |
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| Hypoadrenocorticism, Familial |
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| Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
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| Cytochrome P450 Oxidoreductase Deficiency |
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| Adrenal Cortical Adenoma |
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| Turner Syndrome |
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| Pseudohermaphroditism |
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| Acne |
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| Adrenal Cortical Carcinoma |
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| Anovulation |
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| Germinoma |
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| Ehlers-Danlos Syndrome |
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| Adrenal Cortical Hypofunction |
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| Hypogonadotropic Hypogonadism |
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| Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete |
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| Physical Disorder |
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| Infertility |
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| Male Infertility |
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| Sebaceous Gland Disease |
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| Adrenal Cortex Disease |
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| Pseudohypoaldosteronism |
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| Adrenal Hypoplasia, Congenital |
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| Complement Component 2 Deficiency |
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| Familial Glucocorticoid Deficiency |
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| Gender Incongruence |
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| Precocious Puberty, Male-Limited |
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| Corticosterone Methyloxidase Type I Deficiency |
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| Cloacal Exstrophy |
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| Adrenal Gland Disease |
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| 46,Xy Sex Reversal 2 |
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| Spermatogenic Failure |
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| Biotinidase Deficiency |
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| Alopecia, Androgenetic, 1 |
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| Disorder Of Sexual Development |
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| Hyperaldosteronism, Familial, Type I |
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| 46,Xy Sex Reversal |
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| Asperger Syndrome |
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| Lipid Metabolism Disorder |
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| Persistent Mullerian Duct Syndrome |
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| Congenital Hypothyroidism |
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| Premature Menopause |
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| Celiac Disease 1 |
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| Body Mass Index Quantitative Trait Locus 11 |
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| Craniosynostosis |
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| Type 2 Diabetes Mellitus |
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| Cryptorchidism, Unilateral Or Bilateral |
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Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Mus musculus | CYP21A2 | MGD | MGI:88591 |
| Macaca mulatta | CYP21A2 | VGNC | VGNC:103621 |
| Felis catus | CYP21A2 | VGNC | VGNC:103336 |
| Others | CYP21A2 | NCBI |