POR wt Allele - CISMeF

Preferred Label : POR wt Allele;

NCIt synonyms : CYPOR; P450 (Cytochrome) Oxidoreductase wt Allele;

NCIt definition : Human POR wild-type allele is located in the vicinity of 7q11.2 and is approximately 33 kb in length. This allele, which encodes NADPH-cytochrome P450 reductase protein, plays a role in the transfer of electrons directly from NADPH to all microsomal P450 enzymes. Certain allelic variants of the POR gene cause POR deficiency which, in turn, is associated with Antley-Bixler syndrome, congenital adrenal hyperplasia and disordered steroidogenesis.;

GenBank Accession Number : AF258341;

Details

Origin ID

C50903;

UMLS CUI

C1709416;

OMIM relation
- Cytochrome p450 oxidoreductase [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 7q11.2 [NCIt concept]
gene_is_element_in_pathway
- Oxidative Stress Pathway [NCIt concept]
gene_plays_role_in_process
- Estrogen Metabolic Process [NCIt concept]
- Oxidation [NCIt concept]
- Oxidation/Reduction [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients