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:

Component of the cytochrome c oxidase, the last enzyme in the mitochondrial electron transport chain which drives oxidative phosphorylation. The respiratory chain contains 3 multisubunit complexes succinate dehydrogenase (complex II, CII), ubiquinol-cytochrome c oxidoreductase (cytochrome b-c1 complex, complex III, CIII) and cytochrome c oxidase (complex IV, CIV), that cooperate to transfer electrons derived from NADH and succinate to molecular oxygen, creating an electrochemical gradient over the inner membrane that drives transmembrane transport and the ATP synthase. Cytochrome c oxidase is the component of the respiratory chain that catalyzes the reduction of oxygen to water. Electrons originating from reduced cytochrome c in the intermembrane space (IMS) are transferred via the dinuclear copper A center (CU(A)) of subunit 2 and heme A of subunbit 1 to the active site in subunit 1, a binuclear center (BNC) formed by heme A3 and copper B (CU(B)). The BNC reduces molecular oxygen to 2 water molecules using 4 electrons from cytochrome c in the IMS and 4 protons from the mitochondrial matrix.

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 Updated Annotation Release 109.20200522, GRCh38.p13) (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