EGLN1 wt Allele

Preferred Label : EGLN1 wt Allele;

NCIt synonyms : Egl Nine Homolog 1 (C. elegans) wt Allele; HIF-PH2; HIF Prolyl Hydroxylase 2 Gene; SM20; HIFPH2; SM-20; PNAS-118; C1orf12; HPH-2; PHD2; PNAS-137; HPH2; DKFZp761F179; ECYT3;

NCIt definition : Human EGLN1 wild-type allele is located in the vicinity of 1q42.1 and is approximately 61 kb in length. This allele, which encodes egl nine homolog 1 protein, is involved in the response to hypoxia. Mutation of the gene is associated with familial erythrocytosis type 3.;

GenBank Accession Number : AJ310543;

Details

Origin ID

C101544;

UMLS CUI

C3540628;

OMIM relation
- Egl9 family hypoxia-inducible factor 1 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_is_element_in_pathway
- HIF-1-Alpha Transcription Factor Pathway [NCIt concept]
- Renal Cell Carcinoma Pathway [NCIt concept]
gene_plays_role_in_process
- Cellular Stress Response [NCIt concept]
- Homeostatic Process [NCIt concept]
- Iron Chelation [NCIt concept]
- Oxidation [NCIt concept]
- Oxidation/Reduction [NCIt concept]

Keyword's position in hierarchy(ies) :

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