- SLC45A2
Solute carrier family 45, member 2, also known as SLC45A2, is a human
gene .cite web | title = Entrez Gene: SLC45A2 solute carrier family 45, member 2| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=51151| accessdate = ]PBB_Summary
section_title =
summary_text = 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 ofoculocutaneous albinism type 4. Alternative splicing results in multiple transcript variants encoding different isoforms.cite web | title = Entrez Gene: SLC45A2 solute carrier family 45, member 2| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=51151| accessdate = ]ee also
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Solute carrier family References
Further reading
PBB_Further_reading
citations =
*cite journal | author=Harada M, Li YF, El-Gamil M, "et al." |title=Use of an in vitro immunoselected tumor line to identify shared melanoma antigens recognized by HLA-A*0201-restricted T cells. |journal=Cancer Res. |volume=61 |issue= 3 |pages= 1089–94 |year= 2001 |pmid= 11221837 |doi=
*cite journal | author=Fukamachi S, Shimada A, Shima A |title=Mutations in the gene encoding B, a novel transporter protein, reduce melanin content in medaka. |journal=Nat. Genet. |volume=28 |issue= 4 |pages= 381–5 |year= 2001 |pmid= 11479596 |doi= 10.1038/ng584
*cite journal | author=Newton JM, Cohen-Barak O, Hagiwara N, "et al." |title=Mutations in the human orthologue of the mouse underwhite gene (uw) underlie a new form of oculocutaneous albinism, OCA4. |journal=Am. J. Hum. Genet. |volume=69 |issue= 5 |pages= 981–8 |year= 2001 |pmid= 11574907 |doi=
*cite journal | author=Nakayama K, Fukamachi S, Kimura H, "et al." |title=Distinctive distribution of AIM1 polymorphism among major human populations with different skin color. |journal=J. Hum. Genet. |volume=47 |issue= 2 |pages= 92–4 |year= 2002 |pmid= 11916009 |doi=
*cite journal | author=Strausberg RL, Feingold EA, Grouse LH, "et al." |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899
*cite journal | author=Rundshagen U, Zühlke C, Opitz S, "et al." |title=Mutations in the MATP gene in five German patients affected by oculocutaneous albinism type 4. |journal=Hum. Mutat. |volume=23 |issue= 2 |pages= 106–10 |year= 2004 |pmid= 14722913 |doi= 10.1002/humu.10311
*cite journal | author=Inagaki K, Suzuki T, Shimizu H, "et al." |title=Oculocutaneous albinism type 4 is one of the most common types of albinism in Japan. |journal=Am. J. Hum. Genet. |volume=74 |issue= 3 |pages= 466–71 |year= 2004 |pmid= 14961451 |doi= 10.1086/382195
*cite journal | author=Yuasa I, Umetsu K, Watanabe G, "et al." |title=MATP polymorphisms in Germans and Japanese: the L374F mutation as a population marker for Caucasoids. |journal=Int. J. Legal Med. |volume=118 |issue= 6 |pages= 364–6 |year= 2005 |pmid= 15455243 |doi= 10.1007/s00414-004-0490-z
*cite journal | author=Gerhard DS, Wagner L, Feingold EA, "et al." |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504
*cite journal | author=Suzuki T, Inagaki K, Fukai K, "et al." |title=A Korean case of oculocutaneous albinism type IV caused by a D157N mutation in the MATP gene. |journal=Br. J. Dermatol. |volume=152 |issue= 1 |pages= 174–5 |year= 2005 |pmid= 15656822 |doi= 10.1111/j.1365-2133.2005.06403.x
*cite journal | author=Graf J, Hodgson R, van Daal A |title=Single nucleotide polymorphisms in the MATP gene are associated with normal human pigmentation variation. |journal=Hum. Mutat. |volume=25 |issue= 3 |pages= 278–84 |year= 2006 |pmid= 15714523 |doi= 10.1002/humu.20143
*cite journal | author=Soejima M, Koda Y |title=Population differences of two coding SNPs in pigmentation-related genes SLC24A5 and SLC45A2. |journal=Int. J. Legal Med. |volume=121 |issue= 1 |pages= 36–9 |year= 2007 |pmid= 16847698 |doi= 10.1007/s00414-006-0112-z
*cite journal | author=Lezirovitz K, Nicastro FS, Pardono E, "et al." |title=Is autosomal recessive deafness associated with oculocutaneous albinism a "coincidence syndrome"? |journal=J. Hum. Genet. |volume=51 |issue= 8 |pages= 716–20 |year= 2006 |pmid= 16868655 |doi= 10.1007/s10038-006-0003-7
*cite journal | author=Chi A, Valencia JC, Hu ZZ, "et al." |title=Proteomic and bioinformatic characterization of the biogenesis and function of melanosomes. |journal=J. Proteome Res. |volume=5 |issue= 11 |pages= 3135–44 |year= 2007 |pmid= 17081065 |doi= 10.1021/pr060363j
*cite journal | author=Zühlke C, Criée C, Gemoll T, "et al." |title=Polymorphisms in the genes for oculocutaneous albinism type 1 and type 4 in the German population. |journal=Pigment Cell Res. |volume=20 |issue= 3 |pages= 225–7 |year= 2007 |pmid= 17516931 |doi= 10.1111/j.1600-0749.2007.00377.x
*cite journal | author=Sengupta M, Chaki M, Arti N, Ray K |title=SLC45A2 variations in Indian oculocutaneous albinism patients. |journal=Mol. Vis. |volume=13 |issue= |pages= 1406–11 |year= 2007 |pmid= 17768386 |doi=PBB_Controls
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