UQCRC2 gene

ubiquinol-cytochrome c reductase core protein II

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

From NCBI Gene:

The protein encoded by this gene is located in the mitochondrion, where it is part of the ubiquinol-cytochrome c reductase complex (also known as complex III). This complex constitutes a part of the mitochondrial respiratory chain. Defects in this gene are a cause of mitochondrial complex III deficiency nuclear type 5. [provided by RefSeq, Jul 2015]

From UniProt:

This is a component of the ubiquinol-cytochrome c reductase complex (complex III or cytochrome b-c1 complex), which is part of the mitochondrial respiratory chain. The core protein 2 is required for the assembly of the complex.

Covered on Genetics Home Reference:

From NCBI Gene:

  • Mitochondrial complex III deficiency, nuclear type 5

From UniProt:

Mitochondrial complex III deficiency, nuclear 5 (MC3DN5): A disorder of the mitochondrial respiratory chain resulting in a highly variable phenotype depending on which tissues are affected. Clinical features include mitochondrial encephalopathy, psychomotor retardation, ataxia, severe failure to thrive, liver dysfunction, renal tubulopathy, muscle weakness and exercise intolerance. [MIM:615160]

Cytogenetic Location: 16p12.2, which is the short (p) arm of chromosome 16 at position 12.2

Molecular Location: base pairs 21,953,064 to 21,983,660 on chromosome 16 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 16p12.2, which is the short (p) arm of chromosome 16 at position 12.2
  • MC3DN5
  • QCR2
  • UQCR2