GPR143 wt Allele

Preferred Label : GPR143 wt Allele;

NCIt synonyms : NYS6; Ocular Albinism 1 Gene; OA1; Ocular Albinism 1 (Nettleship-Falls) Gene; G Protein-Coupled Receptor 143 wt Allele;

NCIt definition : Human GPR143 wild-type allele is located in the vicinity of Xp22.2 and is approximately 61 kb in length. This allele, which encodes G-protein coupled receptor 143 protein, plays a role in tyrosine and dopamine binding and signal transduction and in the development of both melanocytes and the pigmented retinal epithelium. Mutation of the gene is associated with ocular albinism type 1 and X-linked congenital nystagmus 6.;

NCI Metathesaurus CUI : CL1920880;

GenBank Accession Number : Z48804;

Details

Origin ID

C201705;

UMLS CUI

C5891026;

OMIM relation
- G protein-coupled receptor 143 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- Xp22.2 [NCIt concept]
gene_plays_role_in_process
- Calcium Signaling [NCIt concept]
- G Protein-Coupled Receptor Signaling [NCIt concept]
- Ligand Binding [NCIt concept]
- Melanogenesis [NCIt concept]
- Receptor Signaling [NCIt concept]
- Signal Transduction [NCIt concept]
- Visual Perception [NCIt concept]

Keyword's position in hierarchy(ies) :

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