Defects in COX10 are a cause of mitochondrial complex IV deficiency (MT-C4D) [MIM:220110]; 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.
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 Heme O synthase COX10; Protoheme IX farnesyltransferase, mitochondrial; similar to COX10 homolog, cytochrome c oxidase assembly protein, heme A: farnesyltransferase
Cat # 15933755
100 µL
Cat # 15784801
100 µL
Cat # 16176607
50 µL
Cat # 17207813
100 µL
Cat # 15774801
100 µL
Cat # 16362345
100 µL
Cat # 16186607
100 µg
Cat # 16897093
20 µL
Cat # 16887093
150 µL
Cat # 16156564
50 µg
Cat # 13298108
400 µL
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