NR5A1 wt Allele

Preferred Label : NR5A1 wt Allele;

NCIt synonyms : Nuclear Receptor Subfamily 5, Group A, Member 1 wt Allele; FTZ1; FTZF1; SF-1; SF1; AD4BP; ELP;

NCIt definition : Human NR5A1 wild-type allele is located in the vicinity of 9q33 and is approximately 26 kb in length. This allele, which encodes steroidogenic factor 1 protein, is involved in the activation of transcription for genes that are associated with steroid processing. Mutations in the gene are a factor in both XY sex reversal with or without adrenal failure and adrenocortical insufficiency without ovarian defect.;

GenBank Accession Number : D88155;

Details

Origin ID

C75871;

UMLS CUI

C2698421;

OMIM relation
- Nuclear receptor subfamily 5, group a, member 1 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 9q33 [NCIt concept]
gene_plays_role_in_process
- Cell Differentiation Process [NCIt concept]
- Cell Proliferation [NCIt concept]
- DNA Binding [NCIt concept]
- Homeostatic Process [NCIt concept]
- Ligand Binding [NCIt concept]
- Maturation [NCIt concept]
- Pattern Formation [NCIt concept]
- Receptor Signaling [NCIt concept]
- Signal Transduction [NCIt concept]
- Transcriptional Regulation [NCIt concept]

Keyword's position in hierarchy(ies) :

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