SLC45A2 wt Allele

Preferred Label : SLC45A2 wt Allele;

NCIt synonyms : AIM1; MATP; SHEP5; 1A1; OCA4; AIM-1; Solute Carrier Family 45, Member 2 wt Allele;

NCIt definition : Human SLC45A2 wild-type allele is located in the vicinity of 5p13.2 and is approximately 40 kb in length. This allele, which encodes membrane-associated transporter protein, plays a role in both melanocyte differentiation and melanin synthesis. Mutation of the gene is associated with oculocutaneous albinism type 4, and polymorphisms in this gene are associated with variations in skin and hair color.;

GenBank Accession Number : AF172849;

Details

Origin ID

C124235;

UMLS CUI

C4084746;

Automatic exact mappings (from CISMeF team)
- Albinism, oculocutaneous, type iv [OMIM Phenotype]
- Aurora kinase b [OMIM gene]
- Crystallin beta-gamma domain-containing protein 1 [OMIM gene]
- Oculocutaneous albinism type 4 [ORDO Disease]
- Oculocutaneous albinism type 4 [ICD-11 More detail]
- Skin-Hair-Eye Pigmentation, Variation In, 5 [MeSH Supplementary Concept]
- Skin/hair/eye pigmentation, variation in, 5 [OMIM Phenotype]
- Solute carrier family 45, member 2 [OMIM gene]
- oculocutaneous albinism type IV [DO Concept]
- solute carrier family 45 member 2 [ORDO Gene]
OMIM relation
- Solute carrier family 45, member 2 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 5p13.2 [NCIt concept]
gene_plays_role_in_process
- Cell Differentiation Process [NCIt concept]
- Ligand Binding [NCIt concept]
- Melanogenesis [NCIt concept]
- Transport Process [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients