ATP5PO

Chr 21

ATP synthase peripheral stalk subunit OSCP

Also known as: ATP5O, ATPO, HMC08D05, MC5DN7, OSCP

NCBI Gene: 539 ENSG00000241837 UniProt: P48047

The protein is a subunit of mitochondrial ATP synthase (Complex V) that helps link the catalytic and membrane domains and maintains structural stability during ATP production from ADP. Mutations cause mitochondrial complex V deficiency with autosomal recessive inheritance, resulting in a mitochondrial disorder that affects cellular energy production. This gene has a GeneReviews entry available for detailed clinical guidance.

GeneReviews ResearchSummary from RefSeq, OMIM, UniProt

The protein encoded by this gene is a component of the F-type ATPase found in the mitochondrial matrix. F-type ATPases are composed of a catalytic core and a membrane proton channel. The encoded protein appears to be part of the connector linking these two components and may be involved in transmission of conformational changes or proton conductance. [provided by RefSeq, Jul 2008]

GeneReviews ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtMitochondrial complex V deficiency, nuclear type 7

Clinical highlights

Gene-disease validity (ClinGen)

mitochondrial disease · ARStrongappropriate for clinical testing

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)

—

P/LP submissions

—

P/LP missense

0.78

LOEUF

Mechanism· predicted

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GeneReview available — ATP5PO

Authoritative clinical overview · Recommended first read