LP71417-7
CPS1 gene
Active
Description
The CPS1 gene (cytochrome P450, family 21, subfamily A, polypeptide 2) [HGNC Gene ID:2323] 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 Name
- CPS1 gene
- Part Display Name
- CPS1 gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2008-10-01
- Construct for LOINC Short Name
- CPS1 gene
LOINC Terminology Service (API) using HL7® FHIR® Get Info
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | CPS1 基因 Synonyms: CPSase I; |
| et-EE | Estonian (Estonia) | CPS1 geen |
| es-ES | Spanish (Spain) | Gen CPS1 |
| it-IT | Italian (Italy) | CPS1, gene Synonyms: Gene CPS1 |
| tr-TR | Turkish (Turkey) | CPS1 geni |
| ru-RU | Russian (Russian Federation) | CPS1 ген |
| nl-NL | Dutch (Netherlands) | CPS1-gen Synonyms: CPS1 gen |
| fr-FR | French (France) | CPS1 gène |
| pl-PL | Polish (Poland) | CPS1 gen Synonyms: Gen CPS1 |
| el-GR | Greek (Greece) | Γονίδιο CPS1 Synonyms: Γονίδιο CPS1 |
LOINC Copyright
Copyright © Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright © Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee. See https://