UQCC3 gene

ubiquinol-cytochrome c reductase complex assembly factor 3

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

From NCBI Gene:

Complex III is a mitochondrial inner membrane protein complex that transfers electrons from ubiquinol to cytochrome c. This gene encodes a protein that functions in complex III assembly. Mutations in this gene result in Mitochondrial complex III deficiency, nuclear type 9. [provided by RefSeq, Dec 2014]

From UniProt:

Required for the assembly of the ubiquinol-cytochrome c reductase complex (mitochondrial respiratory chain complex III or cytochrome b-c1 complex), mediating cytochrome b recruitment and probably stabilization within the complex. Thereby, plays an important role in ATP production by mitochondria. Cardiolipin-binding protein, it may also control the cardiolipin composition of mitochondria membranes and their morphology.

From NCBI Gene:

  • Mitochondrial complex III deficiency, nuclear type 9

From UniProt:

Mitochondrial complex III deficiency, nuclear 9 (MC3DN9): A form of mitochondrial complex III deficiency, a disorder of the mitochondrial respiratory chain resulting in a highly variable phenotype depending on which tissues are affected. MC3DN9 clinical features include feeding difficulties, hypoglycemia, severe lactic acidosis, and delayed psychomotor development. [MIM:616111]

Cytogenetic Location: 11q12.3, which is the long (q) arm of chromosome 11 at position 12.3

Molecular Location: base pairs 62,671,654 to 62,673,690 on chromosome 11 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 11q12.3, which is the long (q) arm of chromosome 11 at position 12.3
  • C11orf83
  • CCDS41658.1
  • MC3DN9
  • UNQ655