PET117

PET117
Identifiers
Aliases	PET117, CSRP2BP, PET117 homolog, PET117 cytochrome c oxidase chaperone, MC4DN19
External IDs	OMIM: 614771; MGI: 5295678; HomoloGene: 130056; GeneCards: PET117; OMA:PET117 - orthologs
Gene location (Human)
Chr.	Chromosome 20 (human)
End	18,143,169 bp
Gene location (Mouse)
Chr.	Chromosome 2 (mouse)
End	144,215,641 bp
RNA expression pattern
	Top expressed in
	endothelial cell; ; gonad; ; pancreatic epithelial cell; ; jejunal mucosa; ; pancreatic ductal cell; ; retinal pigment epithelium; ; mucosa of transverse colon; ; Brodmann area 23; ; mucosa of ileum; ; germinal epithelium;
	Top expressed in
	yolk sac; ; neural layer of retina; ; embryo; ; muscle of thigh; ; embryo; ; morula; ; lens; ; blastocyst; ; dentate gyrus of hippocampal formation granule cell; ; superior frontal gyrus;
	More reference expression data
	n/a
Orthologs
	100303755
	100048644
	ENSG00000232838
	ENSMUSG00000098387
	Q6UWS5
	P0DJF2
	NM_001164811
	NM_001164813
	NP_001158283; NP_001158283.1
	NP_001158285
	Wikidata
View/Edit Human	View/Edit Mouse

PET117 homolog is a protein that in humans is encoded by the PET117 gene. Localized to mitochondria, this protein is a chaperone protein involved in the assembly of mitochondrial Complex IV, or Cytochrome C Oxidase. Mutations in this gene can cause Complex IV deficiency with symptoms including medulla oblongata lesions and lactic acidosis.