Membrane-associated transporter protein (MATP), also known assolute carrier family 45 member 2 (SLC45A2) ormelanoma antigen AIM1, is aprotein that in humans is encoded by theSLC45A2gene.[5][6][7]
In human, the SLC45A2 gene is located on the short (p) arm ofchromosome 5 at position 13.2.
SLC45A2 is atransporter protein that mediatesmelanin synthesis. It may regulate thepH of themelanosome, affectingtyrosinase activity.[8] SLC45A2 is also amelanocyte differentiation antigen that is expressed in a high percentage ofmelanoma cell lines.[9] A similar sequence gene inmedaka fish, 'B,' encodes a transporter that mediates melanin synthesis. Mutations in this gene are a cause ofoculocutaneous albinism type 4. Alternative splicing results in multiple transcript variants encoding different isoforms.[7] Protein expression is localized to the melanosome, and analysis of the by knockdown of RNA expression leads to altered melanosome pH potentially altering tyrosinase function by affecting copper binding.[10]
SLC45A2 has been found to play a role in pigmentation in several species. In humans, it has been identified as a factor in thelight skin of Europeans and as anancestry-informative marker for distinguishing Sri Lankan from European ancestry.[13] Mutations in the gene have also been identified as the cause of human Type IVoculocutaneous albinism.[14] SLC45A2 is the so-calledcream gene responsible in horses for buckskin, palomino and cremello coloration, while a mutation in this gene underlies thewhite tiger variant.[15] In dogs a mutation to this gene causes white fur, pink skin, and blue eyes.[16]
SLC45A2 was identified as amelanoma tumor-associated antigen with high tumor specificity and reduced potential for autoimmune toxicity, and is currently in clinical development as a target for T-cell based immunotherapy.[17]
^Soejima M, Koda Y (January 2007). "Population differences of two coding SNPs in pigmentation-related genes SLC24A5 and SLC45A2".International Journal of Legal Medicine.121 (1):36–9.doi:10.1007/s00414-006-0112-z.PMID16847698.S2CID11192076.
Fukamachi S, Shimada A, Shima A (August 2001). "Mutations in the gene encoding B, a novel transporter protein, reduce melanin content in medaka".Nature Genetics.28 (4):381–5.doi:10.1038/ng584.PMID11479596.S2CID25285273.
Yuasa I, Umetsu K, Watanabe G, Nakamura H, Endoh M, Irizawa Y (December 2004). "MATP polymorphisms in Germans and Japanese: the L374F mutation as a population marker for Caucasoids".International Journal of Legal Medicine.118 (6):364–6.doi:10.1007/s00414-004-0490-z.PMID15455243.S2CID35270576.
Suzuki T, Inagaki K, Fukai K, Obana A, Lee ST, Tomita Y (January 2005). "A Korean case of oculocutaneous albinism type IV caused by a D157N mutation in the MATP gene".The British Journal of Dermatology.152 (1):174–5.doi:10.1111/j.1365-2133.2005.06403.x.PMID15656822.S2CID31736225.
Soejima M, Koda Y (January 2007). "Population differences of two coding SNPs in pigmentation-related genes SLC24A5 and SLC45A2".International Journal of Legal Medicine.121 (1):36–9.doi:10.1007/s00414-006-0112-z.PMID16847698.S2CID11192076.
Chi A, Valencia JC, Hu ZZ, Watabe H, Yamaguchi H, Mangini NJ, et al. (November 2006). "Proteomic and bioinformatic characterization of the biogenesis and function of melanosomes".Journal of Proteome Research.5 (11):3135–44.doi:10.1021/pr060363j.PMID17081065.
Zühlke C, Criée C, Gemoll T, Schillinger T, Kaesmann-Kellner B (June 2007). "Polymorphisms in the genes for oculocutaneous albinism type 1 and type 4 in the German population".Pigment Cell Research.20 (3):225–7.doi:10.1111/j.1600-0749.2007.00377.x.PMID17516931.
Sengupta M, Chaki M, Arti N, Ray K (August 2007). "SLC45A2 variations in Indian oculocutaneous albinism patients".Molecular Vision.13:1406–11.PMID17768386.
