PPTC7

Chr 12

protein phosphatase targeting COQ7

Also known as: TA-PP2C, TAPP2C

NCBI Gene: 160760 ENSG00000196850 UniProt: Q8NI37 OMIM: 609668

This mitochondrial protein phosphatase regulates coenzyme Q biosynthesis and mitophagy by dephosphorylating key enzymes and mitophagy receptors. Mutations cause autosomal recessive mitochondrial disease with early-onset encephalopathy, developmental delay, and multisystem involvement. The gene is highly constrained against loss-of-function variants, reflecting its essential role in mitochondrial metabolism.

OMIM ResearchSummary from RefSeq, UniProt

Enables protein serine/threonine phosphatase activity and protein-macromolecule adaptor activity. Involved in negative regulation of mitophagy and positive regulation of ubiquinone biosynthetic process. Located in mitochondrial matrix. Is active in mitochondrial outer membrane. [provided by Alliance of Genome Resources, Jul 2025]

OMIM ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.36

LOEUF

LOF

Mechanism· predicted