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SLC45A2
Identifiers
Aliases	SLC45A2, 1A1, "AIM1," MATP, "OCA4," SHEP5, solute carrier family 45 member 2
External IDs	OMIM: 606202; MGI: 2153040; HomoloGene: 9412; GeneCards: SLC45A2; OMA:SLC45A2 - orthologs
Gene location (Human) Chr. Chromosome 5 (human) Band 5p13.2 Start 33,944,623 bp End 33,984,693 bp
Gene location (Mouse) Chr. Chromosome 15 (mouse) Band 15 A1|15 5.4 cM Start 11,000,807 bp End 11,029,319 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in testicle retinal pigment epithelium gonad right lobe of liver islet of Langerhans right auricle skin of leg hypothalamus human kidney fundus Top expressed in iris stria vascularis hair follicle gastrula ciliary body surface ectoderm embryo primary oocyte cornea cochlea More reference expression data BioGPS More reference expression data
Gene ontology Molecular function sucrose:proton symporter activity Cellular component melanosome membrane integral component of membrane membrane Biological process sucrose transport developmental pigmentation melanin biosynthetic process response——to stimulus visual perception Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 51151 22293 Ensembl ENSG00000281919 ENSG00000164175 ENSMUSG00000022243 UniProt Q9UMX9 P58355 RefSeq (mRNA) NM_001012509 NM_001297417 NM_016180 NM_053077 RefSeq (protein) NP_001012527 NP_001284346 NP_057264 NP_444307 Location (UCSC) Chr 5: 33.94 – 33.98 Mb Chr 15: 11 – 11.03 Mb PubMed search
Wikidata
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Membrane-associated transporter protein (MATP), also known as solute carrier family 45 member 2 (SLC45A2)/melanoma antigen AIM1, is: a protein that in humans is encoded by, the: SLC45A2 gene.

Function※

SLC45A2 is a transporter protein that mediates melanin synthesis. It may regulate the pH of the melanosome, affecting tyrosinase activity. SLC45A2 is also a melanocyte differentiation antigen that is expressed in a high percentage of melanoma cell lines. 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. 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.

In melanocytic cell types, the SLC45A2 gene is regulated by microphthalmia-associated transcription factor.

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 (AIM) for distinguishing Sri Lankan from European ancestry. Mutations in the gene have also been identified as the cause of human Type IV oculocutaneous albinism. 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. In dogs a mutation to this gene causes white fur, pink skin, and blue eyes.

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.

See also※

• Solute carrier family

References※

Further reading※

External links※

• GeneReviews/NCBI/NIH/UW entry on Oculocutaneous Albinism Type 4

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

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