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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. Note: This description may include information from UniProtKB.
Protein type: Membrane protein, integral; Membrane protein, multi-pass; Transporter; Transporter, SLC family
Chromosomal Location of Human Ortholog: 5p13.2
Molecular Function: sucrose:hydrogen symporter activity
Biological Process: sucrose transport
Disease: Albinism, Oculocutaneous, Type Iv; Skin/hair/eye Pigmentation, Variation In, 5
Reference #:  Q9UMX9 (UniProtKB)
Alt. Names/Synonyms: 1A1; AIM1; MATP; Melanoma antigen AIM1; membrane associated transporter; Membrane-associated transporter protein; Protein AIM-1; S45A2; SHEP5; SLC45A2; Solute carrier family 45 member 2; solute carrier family 45, member 2; underwhite
Gene Symbols: SLC45A2
Molecular weight: 58,268 Da
Basal Isoelectric point: 7.17  Predict pI for various phosphorylation states
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Protein Structure Not Found.

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