MitoProteome Database

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MT000133

UniProt Annotations

Entry Information

Gene Name	cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous)
Protein Entry	CX6B1_HUMAN
UniProt ID	P14854
Species	Human

Comments

Comment type	Description
Disease	Mitochondrial complex IV deficiency (MT-C4D) [MIM:220110]: 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, exercise intolerance, developmental delay, delayed motor development and mental retardation. Some affected individuals manifest a fatal hypertrophic cardiomyopathy resulting in neonatal death. A subset of patients manifest Leigh syndrome. {ECO:0000269\|PubMed:18499082}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Function	Connects the two COX monomers into the physiological dimeric form. {ECO:0000250}.
Similarity	Belongs to the cytochrome c oxidase subunit 6B family. {ECO:0000305}.
Subcellular Location	Mitochondrion intermembrane space {ECO:0000250}.