LP28553-3     CYP21A2 gene

DESCRIPTION
  Part: CYP21A2 gene
  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]
 
 

BASIC PART PROPERTIES
  Type: COMPONENT
  Status: ACTIVE
  Created On: 9/11/2001

WEB CONTENT
  Copyright: OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University.
 
 

LANGUAGE VARIANTS
 
  Chinese (CHINA)  (From: Lin Zhang, A LOINC volunteer from China)   SYNONYMS
  CYP21A2 基因     21 羟化酶缺乏;21 羟化酶缺乏症;21 羟化酶缺陷;21 羟化酶缺陷症;CA21H;CYP21;CYP21B;P450c21B;先天性肾上腺增生;先天性肾上腺增生症;先天性肾上腺皮质增生;先天性肾上腺皮质增生症
 
  Dutch (NETHERLANDS)  (From: NVKC, Dutch Society for Clinical Chemistry and Laboratory Medicine, The Netherlands)   SYNONYMS
  CYP21A2-gen     CYP21A2 gen
 
  Estonian (ESTONIA)  (From: Estonian E-Health Foundation)    
  CYP21A2 geen      
 
  Italian (ITALY)  (From: Consiglio Nazionale delle Ricerche)   SYNONYMS
  CYP21A2, gene     Gene CYP21A2
 
  Russian (RUSSIAN FEDERATION)  (From: Yaroslavl State Medical Academy)    
  CYP21A2 ген      
 
  Spanish (SPAIN)  (From: the Clinical Laboratory Committee of SERVICIO EXTREMEÑO DE SALUD, with the support of BITAC MAP.)   SYNONYMS
  Gen CYP21A2     Citocromo P450 21B
 
  Turkish (TURKEY)  (From: LOINC Turkish Translation Group and the Turkish Ministry of Health)    
  CYP21A2 geni      

INTERNAL FIELDS
  Detail Page Created On: 6/20/2019 12:02:23 PM
  Display name: CYP21A2 gene
  Preferred Abbreviation: CYP21A2 gene