ATP13A3

ATPase 13A3

3 disorders 2 susceptibility 1 causative 3q29 gene with protein product

HGNC:24113 Monarch NCBI Gene 79572 ENSG00000133657 UniProt Q9H7F0 OMIM 610232

Aliases: AFURS1.

Normal function · from ai-gene-review (Q9H7F0, commit 79fe13b38970) · AI-generated, not KB evidence

ai-gene-review has this gene at status DRAFT; 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
Aortic Valve Stenosis	susceptibility
Heritable Pulmonary Arterial Hypertension	causative	mechanism: Pulmonary arterial endothelial dysfunction and apoptotic selection subtype: Rare endothelial-signaling HPAH scoped to subtype: Rare endothelial-signaling HPAH
Idiopathic Pulmonary Arterial Hypertension	susceptibility germline

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
pulmonary arterial hypertension MONDO:0015924	SD	Definitive 2021-11-09	Pulmonary_hypertension not named

Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.