COX4I2 gene

cytochrome c oxidase subunit 4I2

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

From NCBI Gene:

Cytochrome c oxidase (COX), the terminal enzyme of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. It is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may be involved in the regulation and assembly of the complex. This nuclear gene encodes isoform 2 of subunit IV. Isoform 1 of subunit IV is encoded by a different gene, however, the two genes show a similar structural organization. Subunit IV is the largest nuclear encoded subunit which plays a pivotal role in COX regulation. [provided by RefSeq, Jul 2008]

From UniProt:

This protein is one of the nuclear-coded polypeptide chains of cytochrome c oxidase, the terminal oxidase in mitochondrial electron transport.

From NCBI Gene:

  • Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis

From UniProt:

Exocrine pancreatic insufficiency dyserythropoietic anemia and calvarial hyperostosis (EPIDACH): Patients present with pancreatic insufficiency, intestinal malabsorption, failure to thrive, and anemia soon after birth. [MIM:612714]

Cytogenetic Location: 20q11.21, which is the long (q) arm of chromosome 20 at position 11.21

Molecular Location: base pairs 31,637,856 to 31,645,009 on chromosome 20 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 20q11.21, which is the long (q) arm of chromosome 20 at position 11.21
  • COX4
  • COX4-2
  • COX4B
  • COX4L2
  • COXIV-2
  • dJ857M17.2