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TMEM126A
Transmembrane protein 126A is a mitochondrial transmembrane protein of unknown function coded for by the TMEM126A gene.〔(【引用サイトリンク】 url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=84233 )〕
A nonsense mutation in the TMEM126A gene has been shown to be related to optic atrophy. TMEM126A shows higher levels of expression in the parathyroid gland〔http://www.ncbi.nlm.nih.gov/UniGene/ESTProfileViewer.cgi?uglist=Hs.533725〕 as well as in the peripheral blood cells of Huntington's disease patients, indicating that expression of this protein has some relation to blood regulation.
TMEM126A has two isoforms and is found on the long arm of Chromosome 11 in region 1, band 4, sub-band 1.〔(【引用サイトリンク】 url=http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM126A )〕 It is produced by the TMEM126 gene, which codes for a mRNA 726 base pairs long.〔http://www.ncbi.nlm.nih.gov/gene/84233〕 which translates into a protein 195 amino acids long.〔(【引用サイトリンク】 url=http://www.ncbi.nlm.nih.gov/protein/EAW75102.1 )〕 In addition, this gene is expressed 1.8 times the average of a normal gene and has expression with the prostate, uterus, kidney, placenta, heart, brain, and a large number of other tissues.〔(【引用サイトリンク】 url=http://www.ncbi.nlm.nih.gov/IEB/Research/Acembly/av.cgi?db=human&term=TMEM126A )〕
== Gene ==
抄文引用元・出典: フリー百科事典『 ウィキペディア（Wikipedia）』
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