ATP5MGL

Chr 22

ATP synthase membrane subunit g like

Also known as: ATP5K2, ATP5L2

NCBI Gene: 267020 ENSG00000249222 UniProt: Q7Z4Y8

This gene encodes a minor subunit of mitochondrial ATP synthase Complex V, which produces ATP from ADP using the proton gradient generated by the respiratory chain. The gene is not highly constrained against loss-of-function variants (pLI=0.0003, LOEUF=1.96), and no established human disease associations have been reported for ATP5MGL mutations. If pathogenic variants were identified, they would be expected to follow autosomal recessive inheritance given the low constraint scores.

ResearchSummary from RefSeq, UniProt

Predicted to enable proton transmembrane transporter activity. Predicted to contribute to proton-transporting ATP synthase activity, rotational mechanism. Predicted to be involved in proton motive force-driven ATP synthesis. Located in mitochondrion. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.96

LOEUF

Mechanism· predicted

Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429