COX14 gene

COX14, cytochrome c oxidase assembly factor

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

This gene encodes a small single-pass transmembrane protein that localizes to mitochondria. This protein may play a role in coordinating the early steps of cytochrome c oxidase (COX; also known as complex IV) subunit assembly and, in particular, the synthesis and assembly of the COX I subunit of the holoenzyme. Mutations in this gene have been associated with mitochondrial complex IV deficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012]

From UniProt:

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.

Covered on Genetics Home Reference:

From NCBI Gene:

  • Cytochrome-c oxidase deficiency

From UniProt:

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.

Cytogenetic Location: 12q13.12, which is the long (q) arm of chromosome 12 at position 13.12

Molecular Location: base pairs 50,111,981 to 50,120,457 on chromosome 12 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 12q13.12, which is the long (q) arm of chromosome 12 at position 13.12
  • C12orf62