PET100 gene

PET100 homolog

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

From NCBI Gene:

Mitochondrial complex IV, or cytochrome c oxidase, is a large transmembrane protein complex that is part of the respiratory electron transport chain of mitochondria. The small protein encoded by this gene plays a role in the biogenesis of mitochondrial complex IV. This protein localizes to the inner mitochondrial membrane and is exposed to the intermembrane space. Mutations in this gene are associated with mitochondrial complex IV deficiency. This gene has a pseudogene on chromosome 3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014]

Covered on Genetics Home Reference:

From NCBI Gene:

  • Cytochrome-c oxidase deficiency

Cytogenetic Location: 19p13.2, which is the short (p) arm of chromosome 19 at position 13.2

Molecular Location: base pairs 7,629,785 to 7,631,624 on chromosome 19 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 19p13.2, which is the short (p) arm of chromosome 19 at position 13.2
  • C19orf79