SLC24A5 wt Allele

Preferred Label : SLC24A5 wt Allele;

NCIt synonyms : JSX; NCKX5; SHEP4; Solute Carrier Family 24 Member 5 wt Allele; Solute Carrier Family 24, Member 5 Gene; Solute Carrier Family 24 (Sodium/Potassium/Calcium Exchanger), Member 5 Gene; OCA6; Oculocutaneous Albinism 6 (Autosomal Recessive) Gene;

NCIt definition : Human SLC24A5 wild-type allele is located in the vicinity of 15q21.1 and is approximately 22 kb in length. This allele, which encodes sodium/potassium/calcium exchanger 5 protein, is involved in melanosome pigmentation. Mutation of the gene is associated with oculocutaneous albinism type 6.;

NCI Metathesaurus CUI : CL1643108;

GenBank Accession Number : AF348468;

Details

Origin ID

C177179;

UMLS CUI

C5443878;

Automatic exact mappings (from CISMeF team)
- Albinism, oculocutaneous, type VI [OMIM Phenotype]
- Oculocutaneous albinism type 6 [ORDO Disease]
- Skin-Hair-Eye Pigmentation, Variation In, 4 [MeSH Supplementary Concept]
- Solute carrier family 24 (sodium/potassium/calcium exchanger), member 5 [OMIM gene]
- solute carrier family 24 member 5 [ORDO Gene]
OMIM relation
- Solute carrier family 24 (sodium/potassium/calcium exchanger), member 5 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 15q21.1 [NCIt concept]
gene_plays_role_in_process
- Ion Transport Process [NCIt concept]
- Ligand Binding [NCIt concept]
- Melanogenesis [NCIt concept]
- Transmembrane Transport [NCIt concept]
- Transport Process [NCIt concept]

Keyword's position in hierarchy(ies) :

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