AFG3L2

AFG3 like matrix AAA peptidase subunit 2

3 disorders 1 no genetic record 1 untyped 1 causative 18p11.21 gene with protein product

HGNC:315 Monarch NCBI Gene 10939 ENSG00000141385 UniProt Q9Y4W6 OMIM 604581

Previous symbols: SCA28. Aliases: SPAX5.

Normal function · from ai-gene-review (Q9Y4W6, 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
Spastic Ataxia	causative	mechanism: Mitochondrial Proteotoxic Stress Signaling subtype: SPAX5 scoped to subtype: SPAX5
Autosomal Dominant Cerebellar Ataxia Type I	untyped SCA28 AFG3L2 proteolytic-domain missense variants	mechanism: Mitochondrial m-AAA Protease Failure subtype: SCA28 scoped to subtype: SCA28
Autosomal Dominant Cerebellar Ataxia	no genetic record	mechanism: Conventional Dominant Disease Variant

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
AFG3L2-related optic atrophy and/or spastic ataxia spectrum MONDO:0700372	SD	Definitive 2024-05-16	no dismech entry

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