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COX6A1
Cytochrome c oxidase subunit 6A1, mitochondrial is an protein that in humans is encoded by the ''COX6A1'' gene. Cytochrome c oxidase 6A1 is a subunit of the cytochrome ''c'' oxidase complex, also known as Complex IV, the last enzyme in the mitochondrial electron transport chain. A mutation of the COX6A1 gene is associated with a recessive axonal or mixed form of Charcot-Marie-Tooth disease.〔(【引用サイトリンク】 url = http://www.ncbi.nlm.nih.gov/gene/1337 )〕 == Structure == The COX6A1 gene, located on the q arm of chromosome 12 in position 24.2, contains 3 exons and is 2,653 base pairs in length.〔 The COX6A1 protein weighs 12 kDa and is composed of 109 amino acids.〔]〕〔(【引用サイトリンク】 work = Cardiac Organellar Protein Atlas Knowledgebase (COPaKB) )〕 The protein is a subunit of Complex IV, a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. This nuclear gene encodes polypeptide 1 (liver isoform) of subunit VIa, and polypeptide 1 is found in all non-muscle tissues. Polypeptide 2 (heart/muscle isoform) of subunit VIa is encoded by a different gene, COX6A2, and is present only in striated muscles. These two polypeptides share 66% amino acid sequence identity.〔
抄文引用元・出典: フリー百科事典『 ウィキペディア(Wikipedia)』 ■ウィキペディアで「COX6A1」の詳細全文を読む
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