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MT001439

UniProt Annotations

Entry Information

Gene Name	COX14 cytochrome c oxidase assembly factor
Protein Entry	COX14_HUMAN
UniProt ID	Q96I36
Species	Human

Comments

Comment type	Description
Disease	Note=Defects in COX14 may be a cause of a mitochondrial disorder presenting with severe congenital lactic acidosis and dysmorphic features associated with a COX assembly defect. Other features include brain hypertrophy, diffuse alteration of the white-matter myelination, and numerous cavities in the parieto- occipital region, brainstem, and cerebellum, as well as hepatomegaly, hypertrophic cardiomyopathy, renal hypoplasia, and adrenal-gland hyperplasia. {ECO:0000269\|PubMed:22243966}.
Function	Plays a role in the assembly or stability of the cytochrome c oxidase complex (COX). Requires for coordination of the early steps of COX assembly with the synthesis of MT-CO1. {ECO:0000269\|PubMed:22243966, ECO:0000269\|PubMed:22356826}.
Subcellular Location	Mitochondrion membrane {ECO:0000269\|PubMed:22243966, ECO:0000269\|PubMed:22356826}; Single-pass membrane protein {ECO:0000269\|PubMed:22243966, ECO:0000269\|PubMed:22356826}.
Subunit	Component of some MITRAC complex. {ECO:0000269\|PubMed:23260140}.