COX5A gene

cytochrome c oxidase subunit 5A

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

From NCBI Gene:

Cytochrome c oxidase (COX) is the terminal enzyme of the mitochondrial respiratory chain. It is a multi-subunit enzyme complex that couples the transfer of electrons from cytochrome c to molecular oxygen and contributes to a proton electrochemical gradient across the inner mitochondrial membrane. The complex consists of 13 mitochondrial- and nuclear-encoded subunits. The mitochondrially-encoded subunits perform the electron transfer of proton pumping activities. The functions of the nuclear-encoded subunits are unknown but they may play a role in the regulation and assembly of the complex. This gene encodes the nuclear-encoded subunit Va of the human mitochondrial respiratory chain enzyme. A pseudogene COX5AP1 has been found in chromosome 14q22. [provided by RefSeq, Jul 2008]

From UniProt:

This is the heme A-containing chain of cytochrome c oxidase, the terminal oxidase in mitochondrial electron transport.

From UniProt:

Mitochondrial complex IV deficiency is a rare condition caused by mutation in COX5A that lead to pulmonary arterial hypertension (PAH), failure to thrive and lactic acidemia.

Cytogenetic Location: 15q24.2, which is the long (q) arm of chromosome 15 at position 24.2

Molecular Location: base pairs 74,920,275 to 74,938,154 on chromosome 15 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 15q24.2, which is the long (q) arm of chromosome 15 at position 24.2
  • COX
  • COX-VA
  • VA