PET100

Chr 19AR

PET100 cytochrome c oxidase chaperone

Also known as: C19orf79, MC4DN12

NCBI Gene: 100131801 ENSG00000229833 UniProt: P0DJ07 OMIM: 614770

PET100 encodes a small protein essential for the maturation and assembly of mitochondrial complex IV (cytochrome c oxidase), which is part of the respiratory electron transport chain. Mutations cause mitochondrial complex IV deficiency with autosomal recessive inheritance, resulting in a mitochondrial respiratory chain disorder. The gene is not highly constrained against loss-of-function variants, consistent with its recessive inheritance pattern.

GeneReviews OMIM ResearchSummary from RefSeq, OMIM, UniProt

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]

GeneReviews OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Mitochondrial complex IV deficiency, nuclear type 12MIM #619055

Clinical highlights

Gene-disease validity (ClinGen)

Leigh syndrome · ARModerateconsider for supplementary testing2 gene-disease associations curated in total

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.82

LOEUF

LOF

Mechanism· G2P

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GeneReview available — PET100