2.A.2.4.9
Solute carrier family 45, member 2, Slc45A2, also called melanocyte-restricted antigen or melanoma antigen, PatP or Aim1.  Transports sucrose, glucose and fructose with protons, possibly into vesicular structures that contain melanin (Vitavska et al. 2018).  Found in skin and hair; involved in pigmentation (Bartölke et al. 2014).  Defects give rise to oculocutaneous albinism (Meyer et al. 2011). One such mutation in dogs, G493D in TMS 11, gives rise to albinisms (Wijesena and Schmutz 2015). OCA type IV (OCA4, OMIM) develops due to homozygous or compound heterozygous mutations in the solute carrier family 45, member 2 (SLC45A2) gene, and many mutations in this human gene have been identified (Inagaki et al. 2006; Tóth et al. 2017). It interacts with 14-3-3 proteins (see TC# 8.A.98). Multiple pathogenic variants in SLC45A2 give rise to oculocutaneous albinism (Lewis and Girisha 2019). Reviewed by Wiriyasermkul et al. 2020. Four members of the SLC45 family, SLC45A1-SLC45A4, were differentially expressed in melanoma, but only SLC45A2 and SLC45A3 had prognostic guiding values (Xie et al. 2021).  A 3-bp deletion in the SLC45A2 gene is associated with loss of fleece pigmentation in black-fleeced Suffolk sheep (Tearle et al. 2025).