Both polymorphisms represent coding variants in the SLC45A2 gene, for which the human equivalent harbors numerous variants associated with oculocutaneous albinism type 4.
Oculocutaneous albinism type 4 (OCA4) in humans and similar phenotypes in many animal species are caused by variants in the SLC45A2 gene, encoding a putative sugar transporter.
Mutations in the solute carrier family 45, member 2 gene (SLC45A2, also called MATP) cause oculocutaneous albinism type 4 (OCA4), which is the second most prevalent type of OCA in Japan.
Mutations in MATP result in pigmentation alterations in mice (underwhite, uw), in medaka (b-locus), and in man (Oculocutaneous Albinism Type 4, OCA4) (Nat.Genet.28 (2001) 381; Am.J. Hum.Genet.69 (2001) 981).