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Solute carrier family 45, member 2
Identifiers
Symbols SLC45A2; AIM1; 1A1; MATP
External IDs OMIM606202 MGI2153040 HomoloGene9412 GeneCards: SLC45A2 Gene
RNA expression pattern
PBB GE SLC45A2 220245 at tn.png
PBB GE SLC45A2 221644 s at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 51151 22293
Ensembl ENSG00000164175 ENSMUSG00000022243
UniProt Q9UMX9 Q541S3
RefSeq (mRNA) NM_001012509 NM_053077
RefSeq (protein) NP_001012527 NP_444307
Location (UCSC) Chr 5:
33.98 - 34.02 Mb
Chr 15:
10.95 - 10.97 Mb
PubMed search [1] [2]

Membrane-associated transporter protein is a protein that in humans is encoded by the SLC45A2 gene.[1][2][3]

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.[3]

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

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. doi:10.1007/s100380200007. PMID 11916009.  
  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. doi:10.1086/324340. PMID 11574907.  
  3. ^ a b "Entrez Gene: SLC45A2 solute carrier family 45, member 2". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=51151.  
  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. doi:10.1074/jbc.M110229200. PMID 11700328.  
  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. doi:10.1111/j.1755-148X.2008.00505.x.  

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.  
  • 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.  
  • 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.  
  • 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.  
  • 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.  
  • 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.  
  • 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.  
  • 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.  
  • 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.  
  • 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.  
  • 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.  
  • 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.  
  • Sengupta M, Chaki M, Arti N, Ray K (2007). "SLC45A2 variations in Indian oculocutaneous albinism patients.". Mol. Vis. 13: 1406–11. PMID 17768386.  

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

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