UNC119 wt Allele

Preferred Label : UNC119 wt Allele;

NCIt synonyms : HRG4; RG4; Unc-119 Homolog (C. elegans) wt Allele; POC7; POC7A;

NCIt definition : Human UNC119 wild-type allele is located in the vicinity of 17q11.2 and is approximately 6 kb in length. This allele, which encodes protein unc-119 homolog A, is involved in the modulation of subcellular protein localization. Mutation of the gene is associated with cone-rod dystrophy.;

GenBank Accession Number : U40998;

Details

Origin ID

C102481;

UMLS CUI

C3538691;

Automatic exact mappings (from CISMeF team)
- Neuregulin 4 [OMIM gene]
- RG-4 [MeSH concept]
- RG-4 [MeSH Supplementary Concept]
- Unc119 lipid-binding chaperone [OMIM Phenotype]
- unc-119 lipid binding chaperone [ORDO Gene]
OMIM relation
- Unc119 lipid-binding chaperone [OMIM Phenotype]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 17q11.2 [NCIt concept]
gene_plays_role_in_process
- Intracellular Transport [NCIt concept]
- Ligand Binding [NCIt concept]
- Sight [NCIt concept]
- Signal Transduction [NCIt concept]
- Subcellular Protein Targeting [NCIt concept]
- Transport Process [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients