ATP5ME

Chr 4

ATP synthase membrane subunit e

Also known as: ATP5I, ATP5K

NCBI Gene: 521 ENSG00000169020 UniProt: P56385 OMIM: 601519

The ATP5ME gene encodes the e subunit of mitochondrial ATP synthase (Complex V), which synthesizes ATP from ADP using the proton gradient generated by the respiratory chain. Mutations cause autosomal recessive mitochondrial complex V deficiency, leading to early-onset neurodegeneration, developmental delay, seizures, and cardiomyopathy. The gene shows relatively low constraint to loss-of-function mutations, consistent with recessive inheritance patterns.

OMIM ResearchSummary from RefSeq, UniProt

Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. It is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, which comprises the proton channel. The F1 complex consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled in a ratio of 3 alpha, 3 beta, and a single representative of the other 3. The Fo seems to have nine subunits (a, b, c, d, e, f, g, F6 and 8). This gene encodes the e subunit of the Fo complex. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Jun 2010]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.37

LOEUF

Multiple*

Mechanism· predicted