PET100

PET100
Identifiers
Aliases	PET100, C19orf79, PET100 homolog, PET100 cytochrome c oxidase chaperone, MC4DN12
External IDs	OMIM: 614770; MGI: 3615306; HomoloGene: 87502; GeneCards: PET100; OMA:PET100 - orthologs
Gene location (Human)
Chr.	Chromosome 19 (human)
End	7,631,956 bp
Gene location (Mouse)
Chr.	Chromosome 8 (mouse)
End	3,675,848 bp
RNA expression pattern
	Top expressed in
	bone marrow cells; ; epithelium of colon; ; monocyte; ; apex of heart; ; olfactory zone of nasal mucosa; ; tonsil; ; granulocyte; ; left ventricle; ; human kidney; ; primary visual cortex;
	Top expressed in
	granulocyte; ; interventricular septum; ; yolk sac; ; right kidney; ; dentate gyrus of hippocampal formation granule cell; ; pyloric antrum; ; facial motor nucleus; ; intercostal muscle; ; muscle of thigh; ; medial ganglionic eminence;
	More reference expression data
	n/a
Gene ontology
Molecular function	unfolded protein binding;
Cellular component	membrane; mitochondrion; integral component of membrane; integral component of mitochondrial inner membrane;
Biological process	mitochondrial cytochrome c oxidase assembly;
	Sources:Amigo / QuickGO
Orthologs
	100131801
	100503890
	ENSG00000229833
	ENSMUSG00000087687
	P0DJ07
	P0DJE0
	NM_001171155
	NM_001195244
	NP_001164626
	NP_001182173
	Wikidata
View/Edit Human	View/Edit Mouse

PET100 homolog is a protein that in humans is encoded by the PET100 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 the PET100 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.