CYP21A2 wt Allele

Preferred Label : CYP21A2 wt Allele;

NCIt synonyms : CA21H; CYP21B; P450c21B; CYP1ALPHA; CPS1; CAH1; CYP21; Cytochrome P450, Family 21, Subfamily A, Polypeptide 2 wt Allele;

NCIt definition : Human CYP21A2 wild-type allele is located in the vicinity of 6p21.3 and is approximately 3 kb in length. This allele, which encodes cytochrome P450 21 protein, plays a role in the 21-hydroxylation of steroids. Gene conversion events involving the CYP21A2 gene and a nearby pseudogene putatively account for many cases of steroid 21-hydroxylase deficiency. CYP21A2 gene dysfunction causes congenital adrenal hyperplasia.;

GenBank Accession Number : NM_000500;

Details

Origin ID

C52351;

UMLS CUI

C1706115;

OMIM relation
- Cytochrome p450, family 21, subfamily a, polypeptide 2 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_associated_with_disease
- Adrenal Cortical Hyperplasia [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_has_physical_location
- 6: 32114061-32117396 [NCIt concept]
gene_in_chromosomal_location
- 6p21.3 [NCIt concept]
gene_is_element_in_pathway
- Steroid Hormone Biosynthesis Pathway [NCIt concept]
gene_plays_role_in_process
- Detoxification [NCIt concept]
- Intermediary Metabolic Process [NCIt concept]
- Iron Chelation [NCIt concept]
- Oxidation [NCIt concept]
- Oxidation/Reduction [NCIt concept]
- Steroid Metabolic Process [NCIt concept]

Keyword's position in hierarchy(ies) :

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