Gene: PCP2

Alternate names for this Gene: GPSM4

Gene Summary:

Gene is located in Chromosome: 19

Location in Chromosome : 19p13.2

Description of this Gene: Purkinje cell protein 2

Type of Gene: protein-coding

Gene: PET100

Alternate names for this Gene: C19orf79|MC4DN12

Gene Summary: 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.

Gene is located in Chromosome: 19

Location in Chromosome : 19p13.2

Description of this Gene: PET100 cytochrome c oxidase chaperone

Type of Gene: protein-coding

Gene: XAB2

Alternate names for this Gene: HCNP|HCRN|NTC90|SYF1

Gene Summary:

Gene is located in Chromosome: 19

Location in Chromosome : 19p13.2

Description of this Gene: XPA binding protein 2

Type of Gene: protein-coding

rs587779779 in PCP2;PET100;XAB2 gene and Congenital lactic acidosis PMID 25293719 2015 A truncating PET100 variant causing fatal infantile lactic acidosis and isolated cytochrome c oxidase deficiency.

rs587779779 in PCP2;PET100;XAB2 gene and Cytochrome-c Oxidase Deficiency PMID 25293719 2015 A truncating PET100 variant causing fatal infantile lactic acidosis and isolated cytochrome c oxidase deficiency.