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Immunogen sequence: PNEKELIELE PDSVIEDSID VGKETKEEKR WKEMKLQVYD LPGILARLS
Highest antigen sequence identity to the following orthologs: Mouse - 65%, Rat - 59%.
Defects in COX10 are a cause of mitochondrial complex IV deficiency (MT-C4D); also known as cytochrome c oxidase deficiency. A disorder of the mitochondrial respiratory chain with heterogeneous clinical manifestations, ranging from isolated myopathy to severe multisystem disease affecting several tissues and organs. Features include hypertrophic cardiomyopathy, hepatomegaly and liver dysfunction, hypotonia, muscle weakness, excercise intolerance, developmental delay, delayed motor development and mental retardation. A subset of patients manifest Leigh syndrome.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: COX10 heme A:farnesyltransferase cytochrome c oxidase assembly factor; COX10 homolog, cytochrome c oxidase assembly protein, heme A: farnesyltransferase; cytochrome c oxidase assembly homolog 10; cytochrome c oxidase assembly protein; cytochrome c oxidase subunit X; heme A: farnesyltransferase; Heme O synthase; Protoheme IX farnesyltransferase, mitochondrial
基因别名: COX10
UniProt ID: (Human) Q12887
Entrez Gene ID: (Human) 1352
分子生物学功能: acyltransferase