Membrane-associated transporter protein (MATP), also known as solute carrier family 45 member 2 (SLC45A2) or melanoma antigen AIM1, is a protein that in humans is encoded by the SLC45A2gene.[5][6][7]
In human, the SLC45A2 gene is located on the short (p) arm of chromosome 5 at position 13.2.
Function
SLC45A2 is a transporter protein that mediates melanin synthesis. It may regulate the pH of the melanosome, affecting tyrosinase activity.[8] SLC45A2 is also a melanocyte differentiation antigen that is expressed in a high percentage of melanoma cell lines.[9] A similar sequence gene in medaka fish, 'B,' encodes a transporter that mediates melanin synthesis. Mutations in this gene are a cause of oculocutaneous 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 the light skin of Europeans and as an ancestry-informative marker for distinguishing Sri Lankan from European ancestry.[13] Mutations in the gene have also been identified as the cause of human Type IV oculocutaneous albinism.[14] SLC45A2 is the so-called cream gene responsible in horses for buckskin, palomino and cremello coloration, while a mutation in this gene underlies the white tiger variant.[15] In dogs a mutation to this gene causes white fur, pink skin, and blue eyes.[16]
SLC45A2 was identified as a melanoma 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]
See also
Evolution and divergence of light skin mutations and alleles. The SLC45A2 contributes to pigmentation in Europeans.Solute carrier family
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.
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, etal. (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.
