ATP5F1E across dismech

ATP5F1E (ATP synthase F1 subunit epsilon) is named by 1 disorder entry.

Normal function

ai-gene-review gives ATP5F1E's core molecular function as structural molecule activity, contributing to proton-transporting ATP synthase activity, rotational mechanism as part of the proton-transporting ATP synthase complex, and acting in proton motive force-driven mitochondrial ATP synthesis. The epsilon subunit is a non-catalytic part of the central stalk.

Causative record

The one entry naming ATP5F1E types it as causative: Mitochondrial Complex V (ATP Synthase) Deficiency, Nuclear Type 3, with variant origin germline. The gene sits on the node ATP5F1E p.Tyr12Cys Substitution.

Where the layers agree and disagree

The KB's gene-bound node carries a molecular function rather than a process, so the layers share 0 GO process terms by exact identifier. ClinGen classifies ATP5F1E for 1 disease, mitochondrial disease, a lumped grouping with no matching dismech entry.