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SLC45A2

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Identifiers
SymbolsSLC45A2 ; 1A1; AIM1; MATP; OCA4; SHEP5
External IDsOMIM606202 MGI2153040 HomoloGene9412 IUPHAR: 1210 GeneCards: SLC45A2 Gene
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
SpeciesHumanMouse
Entrez5115122293
EnsemblENSG00000164175ENSMUSG00000022243
UniProtQ9UMX9P58355
RefSeq (mRNA)NM_001012509NM_053077
RefSeq (protein)NP_001012527NP_444307
Location (UCSC)Chr 5:
33.94 – 33.98 Mb
Chr 15:
11 – 11.03 Mb
PubMed search[1][2]

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 SLC45A2 gene.[1][2][3]

Function

SLC45A2 is a transporter protein that mediates melanin synthesis. SLC45A2 is also 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.[3]

In melanocytic cell types, the SLC45A2 gene is regulated by microphthalmia-associated transcription factor.[4][5]

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.[6] 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.[7]

See also

References

  1. ^ Nakayama K, Fukamachi S, Kimura H, Koda Y, Soemantri A, Ishida T (Mar 2002). "Distinctive distribution of AIM1 polymorphism among major human populations with different skin color". J Hum Genet 47 (2): 92–4. PMID 11916009. doi:10.1007/s100380200007. 
  2. ^ Newton JM, Cohen-Barak O, Hagiwara N, Gardner JM, Davisson MT, King RA, Brilliant MH (Oct 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. PMC 1274374. PMID 11574907. doi:10.1086/324340. 
  3. ^ a b "Entrez Gene: SLC45A2 solute carrier family 45, member 2". 
  4. ^ Du J, Fisher DE (2002). "Identification of Aim-1 as the underwhite mouse mutant and its transcriptional regulation by MITF". J. Biol. Chem. 277 (1): 402–6. PMID 11700328. doi:10.1074/jbc.M110229200. 
  5. ^ Hoek KS, Schlegel NC, Eichhoff OM, Widmer DS, Praetorius C, Einarsson SO, Valgeirsdottir S, Bergsteinsdottir K, Schepsky A, Dummer R, Steingrimsson E (2008). "Novel MITF targets identified using a two-step DNA microarray strategy". Pigment Cell Melanoma Res. 21 (6): 665–76. PMID 19067971. doi:10.1111/j.1755-148X.2008.00505.x. 
  6. ^ Soejima M, Koda Y (January 2007). "Population differences of two coding SNPs in pigmentation-related genes SLC24A5 and SLC45A2". Int. J. Legal Med. 121 (1): 36–9. PMID 16847698. doi:10.1007/s00414-006-0112-z. 
  7. ^ Xu X, Dong GX, Hu XS, Miao L, Zhang XL, Zhang DL, Yang HD, Zhang TY, Zou ZT, Zhang TT, Zhuang Y, Bhak J, Cho YS, Dai WT, Jiang TJ, Xie C, Li R, Luo SJ (June 2013). "The genetic basis of white tigers". Curr. Biol. 23 (11): 1031–5. PMID 23707431. doi:10.1016/j.cub.2013.04.054. 

Further reading

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External links

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


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