solute carrier family 45 member 2 (SLC45A2, membrane-associated transporter protein, AIM-1 protein, melanoma antigen AIM1, MATP)

Function

• transport of molecules for melanin biosynthesis (putative)

Structure

• belongs to the glycoside-pentoside-hexuronide (GPH) cation symporter transporter (TC 2.A.2) family

Compartment

melanosome membrane

Alternative splicing

named isoforms=3; AIM-1a, AIM-1b, AIM-1c

Expression

• melanocyte differentiation antigen
• expressed in most melanoma cell lines & melanocytes

Polymorphism

• genetic variations in SLC45A2 are associated with skin/hair/eye pigmentation variability type 5 (SHEP5)
• defects in SLC45A2 are the cause of oculocutaneous albinism type 4 (OCA4)

More general terms

• transmembrane 9 protein
• solute carrier family 45 (SLC45, SLC45A)

Database

• OMIM: https://mirror.omim.org/entry/227240
• OMIM: https://mirror.omim.org/entry/606202
• OMIM: https://mirror.omim.org/entry/606574
• UniProt: http://www.uniprot.org/uniprot/Q9UMX9.html