UniProt Protein Function: | SLC45A2: Melanocyte differentiation antigen. May transport substances required for melanin biosynthesis. Defects in SLC45A2 are the cause of albinism oculocutaneous type 4 (OCA4). A disorder of pigmentation characterized by reduced biosynthesis of melanin in the skin, hair and eyes. Patients show reduced or lacking pigmentation associated with classic albinism ocular abnormalities, including decreased visual acuity, macular hypoplasia, optic dysplasia, atypical choroidal vessels, and nystagmus. Belongs to the glycoside-pentoside-hexuronide (GPH) cation symporter transporter (TC 2.A.2) family. 4 isoforms of the human protein are produced by alternative splicing.Protein type: Membrane protein, multi-pass; Membrane protein, integral; Transporter; Transporter, SLC familyChromosomal Location of Human Ortholog: 5p13.2Cellular Component: melanosome membrane; integral to membraneBiological Process: melanin biosynthetic process; visual perception; response to stimulusDisease: Skin/hair/eye Pigmentation, Variation In, 5; Albinism, Oculocutaneous, Type Iv |
UniProt Protein Details: | |
NCBI Summary: | This gene encodes a transporter protein that mediates melanin synthesis. The protein is expressed in a high percentage of melanoma cell lines. Mutations in this gene are a cause of oculocutaneous albinism type 4, and polymorphisms in this gene are associated with variations in skin and hair color. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009] |
UniProt Code: | Q9UMX9 |
NCBI GenInfo Identifier: | 61635915 |
NCBI Gene ID: | 51151 |
NCBI Accession: | NP_057264.3 |
UniProt Secondary Accession: | Q9UMX9,Q6P2P0, Q9BTM3 |
UniProt Related Accession: | Q9UMX9 |
Molecular Weight: | 51,200 Da |
NCBI Full Name: | membrane-associated transporter protein isoform a |
NCBI Synonym Full Names: | solute carrier family 45, member 2 |
NCBI Official Symbol: | SLC45A2 |
NCBI Official Synonym Symbols: | 1A1; AIM1; MATP; OCA4; SHEP5 |
NCBI Protein Information: | membrane-associated transporter protein; underwhite; protein AIM-1; melanoma antigen AIM1; membrane associated transporter |
UniProt Protein Name: | Membrane-associated transporter protein |
UniProt Synonym Protein Names: | Melanoma antigen AIM1; Protein AIM-1; Solute carrier family 45 member 2 |
Protein Family: | Membrane-associated transporter protein |
UniProt Gene Name: | SLC45A2 |
UniProt Entry Name: | S45A2_HUMAN |