SLC45A2

Solute carrier family 45, member 2
Identifiers
Symbols	SLC45A2 ; AIM1; 1A1; MATP
External IDs	Template:OMIM5 Template:MGI HomoloGene: 9412
Gene ontology Cellular component Template:GNF GO Template:GNF GO Biological process Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO
RNA expression pattern
File:PBB GE SLC45A2 220245 at tn.png
File:PBB GE SLC45A2 221644 s at tn.png
More reference expression data
Orthologs
Template:GNF Ortholog box
Species	Human	Mouse
Entrez	n/a	n/a
Ensembl	n/a	n/a
UniProt	n/a	n/a
RefSeq (mRNA)	n/a	n/a
RefSeq (protein)	n/a	n/a
Location (UCSC)	n/a	n/a
PubMed search	n/a	n/a

Solute carrier family 45, member 2, also known as SLC45A2, is a human gene.

The protein encoded by this gene encodes a melanocyte differentiation antigen that is expressed in a high percentage of melanoma cell lines. A similar sequence gene in medaka, '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.

See also

• Solute carrier family

Further reading

• Harada M, Li YF, El-Gamil M; et al. (2001). "Use of an in vitro immunoselected tumor line to identify shared melanoma antigens recognized by HLA-A*0201-restricted T cells". Cancer Res. 61 (3): 1089–94. PMID 11221837.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Fukamachi S, Shimada A, Shima A (2001). "Mutations in the gene encoding B, a novel transporter protein, reduce melanin content in medaka". Nat. Genet. 28 (4): 381–5. doi:10.1038/ng584. PMID 11479596.CS1 maint: Multiple names: authors list (link)
• Newton JM, Cohen-Barak O, Hagiwara N; et al. (2001). "Mutations in the human orthologue of the mouse underwhite gene (uw) underlie a new form of oculocutaneous albinism, OCA4". Am. J. Hum. Genet. 69 (5): 981–8. PMID 11574907.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Nakayama K, Fukamachi S, Kimura H; et al. (2002). "Distinctive distribution of AIM1 polymorphism among major human populations with different skin color". J. Hum. Genet. 47 (2): 92–4. PMID 11916009.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Strausberg RL, Feingold EA, Grouse LH; et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Rundshagen U, Zühlke C, Opitz S; et al. (2004). "Mutations in the MATP gene in five German patients affected by oculocutaneous albinism type 4". Hum. Mutat. 23 (2): 106–10. doi:10.1002/humu.10311. PMID 14722913.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Inagaki K, Suzuki T, Shimizu H; et al. (2004). "Oculocutaneous albinism type 4 is one of the most common types of albinism in Japan". Am. J. Hum. Genet. 74 (3): 466–71. doi:10.1086/382195. PMID 14961451.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Yuasa I, Umetsu K, Watanabe G; et al. (2005). "MATP polymorphisms in Germans and Japanese: the L374F mutation as a population marker for Caucasoids". Int. J. Legal Med. 118 (6): 364–6. doi:10.1007/s00414-004-0490-z. PMID 15455243.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Gerhard DS, Wagner L, Feingold EA; et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMID 15489334.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Suzuki T, Inagaki K, Fukai K; et al. (2005). "A Korean case of oculocutaneous albinism type IV caused by a D157N mutation in the MATP gene". Br. J. Dermatol. 152 (1): 174–5. doi:10.1111/j.1365-2133.2005.06403.x. PMID 15656822.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Graf J, Hodgson R, van Daal A (2006). "Single nucleotide polymorphisms in the MATP gene are associated with normal human pigmentation variation". Hum. Mutat. 25 (3): 278–84. doi:10.1002/humu.20143. PMID 15714523.CS1 maint: Multiple names: authors list (link)
• Soejima M, Koda Y (2007). "Population differences of two coding SNPs in pigmentation-related genes SLC24A5 and SLC45A2". Int. J. Legal Med. 121 (1): 36–9. doi:10.1007/s00414-006-0112-z. PMID 16847698.
• Lezirovitz K, Nicastro FS, Pardono E; et al. (2006). "Is autosomal recessive deafness associated with oculocutaneous albinism a "coincidence syndrome"?". J. Hum. Genet. 51 (8): 716–20. doi:10.1007/s10038-006-0003-7. PMID 16868655.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Chi A, Valencia JC, Hu ZZ; et al. (2007). "Proteomic and bioinformatic characterization of the biogenesis and function of melanosomes". J. Proteome Res. 5 (11): 3135–44. doi:10.1021/pr060363j. PMID 17081065.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Zühlke C, Criée C, Gemoll T; et al. (2007). "Polymorphisms in the genes for oculocutaneous albinism type 1 and type 4 in the German population". Pigment Cell Res. 20 (3): 225–7. doi:10.1111/j.1600-0749.2007.00377.x. PMID 17516931.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Sengupta M, Chaki M, Arti N, Ray K (2007). "SLC45A2 variations in Indian oculocutaneous albinism patients". Mol. Vis. 13: 1406–11. PMID 17768386.CS1 maint: Multiple names: authors list (link)

This article incorporates text from the United States National Library of Medicine, which is in the public domain.