Curated summary · agent-written · kb/genes/curated/hgnc_18802.md

All 13 claims checked against the KB draft

ATPAF2 across dismech

ATPAF2 (ATP synthase mitochondrial F1 complex assembly factor 2) is named by 1 disorder entry.

Normal function

ai-gene-review gives ATPAF2's core molecular function as protein folding chaperone, acting in mitochondrial proton-transporting ATP synthase complex assembly in the mitochondrial matrix. It is the assembly chaperone for the F1 alpha subunit, not a subunit of the mature enzyme, and carries no ATP synthase catalytic activity.

Causative record

The one entry naming ATPAF2 types it as causative: Mitochondrial Complex V (ATP Synthase) Deficiency, Nuclear Type 1, with variant origin germline. The gene sits on the node Loss of ATP12 F1 Assembly Factor Function.

Where the layers agree and disagree

The KB node and ai-gene-review share the assembly process by exact identifier: mitochondrial proton-transporting ATP synthase complex assembly. ClinGen classifies ATPAF2 for 1 disease, mitochondrial disease, a lumped grouping with no matching dismech entry, so no ClinGen tier is recorded on the subtype entry.

Underlined values are claims re-computed from the knowledge base each time this page is built. The tables below are the source of truth.

Normal function · from ai-gene-review (Q8N5M1, commit 79fe13b38970) · AI-generated, not KB evidence

ai-gene-review has this gene at status INITIALIZED; the description is shown only once the review is complete. Read the draft upstream.

In the knowledge base · computed from kb/ at build time

Disorders

Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.

Disorder	Relationship	Where the gene appears
Mitochondrial Complex V (ATP Synthase) Deficiency, Nuclear Type 1	causative germline	mechanism: Loss of ATP12 F1 Assembly Factor Function

ClinGen gene–disease validity · snapshot 2026-10-03 · matched to entries by MONDO

An entry matches when ClinGen's MONDO disease is the entry's own disease term, a subtype term, or an exact-match mapping. An amber status marks an entry ClinGen supports the gene for (Definitive, Strong or Moderate) whose own record does not type it. A Limited, Disputed or Refuted tier on such an entry is not a gap.

ClinGen disease	MOI	Classification	dismech entry
mitochondrial disease MONDO:0044970	AR	Limited 2022-04-04	no dismech entry