LP28553-3
CYP21A2 gene
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Description
The CYP21A2 gene (cytochrome P450, family 21, subfamily A, polypeptide 2) [HGNC Gene ID:2600] is located on chromosome 6p21.3. 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] [NCBI Gene ID:1589] Source: National Center for Biotechnology Information (NCBI) Gene
Reference Information
| Type | Source | Reference |
|---|---|---|
| Webcontent | Online Mendelian Inheritance in Man®Copyright OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University. | Link to OMIM |
Basic Part Properties
- Part Display Name
- CYP21A2 gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2001-09-11
- Construct for LOINC Short Name
- CYP21A2
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | CYP21A2 基因 Synonyms: 21 羟化酶缺乏; |
| et-EE | Estonian (Estonia) | CYP21A2 geen |
| es-ES | Spanish (Spain) | Gen CYP21A2 |
| it-IT | Italian (Italy) | CYP21A2, gene Synonyms: Gene CYP21A2 |
| tr-TR | Turkish (Turkey) | CYP21A2 geni |
| ru-RU | Russian (Russian Federation) | CYP21A2 ген |
| nl-NL | Dutch (Netherlands) | CYP21A2-gen Synonyms: CYP21A2 gen |
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