SLC45A2
Developmental stage
Expressed at late stages of melanosome differentiation.
Function
Proton-associated glucose and sucrose transporter (By similarity). May be able to transport also fructose (By similarity). Expressed at a late melanosome maturation stage where functions as proton/glucose exporter which increase lumenal pH by decreasing glycolysis (PubMed:32966160, PubMed:35469906). Regulates melanogenesis by maintaining melanosome neutralization that is initially initiated by transient OCA2 and required for a proper function of the tyrosinase TYR (PubMed:32966160, PubMed:35469906).
Involvement in disease
Albinism, oculocutaneous, 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.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the glycoside-pentoside-hexuronide (GPH) cation symporter transporter (TC 2.A.2) family.
Tissue Specificity
Expressed in mature melanocytes.
Cellular localization
- Melanosome membrane
- Multi-pass membrane protein
- Enriched in mature melanocyte membrane subdomains.
Alternative names
AIM1, MATP, SLC45A2, Membrane-associated transporter protein, Melanoma antigen AIM1, Solute carrier family 45 member 2, Protein AIM-1