PET100, Official Symbol PET100provided by HGNC Official Full Name PET100 cytochrome c oxidase chaperoneprovided by HGNC Primary source HGNC:HGNC:40038 See related Ensembl:ENSG00000229833 MIM:614770; AllianceGenome:HGNC:40038 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as MC4DN12; C19orf79 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. [provided by RefSeq, Apr 2014] Expression Ubiquitous expression in kidney (RPKM 40.1), colon (RPKM 37.0) and 25 other tissues See more Orthologs mouse all