COX14

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]

Description

Cytochrome c oxidase assembly factor COX14

Tissue specificity

Low tissue specificity

Subcell location

Mitochondria

Predicted location

Membrane

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted membrane proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

12 (50112082 - 50120457)

Ensembl ID

ENSG00000178449  (ver. 103.38)

Orthologs

Mouse Cox14: ENSMUSG00000023020

UniProt

Q96I36

neXtProt

NX_Q96I36

Human splice variants
Mouse splice variants

Protein structure