ELOVL4

ELOVL fatty acid elongase 4

2 disorders 2 untyped 6q14.1 gene with protein product

HGNC:14415 Monarch NCBI Gene 6785 ENSG00000118402 UniProt Q9GZR5 OMIM 605512

Previous symbols: STGD2, STGD3, SCA34. Aliases: CT118.

Normal function · from ai-gene-review (Q9GZR5, 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
Autosomal Dominant Cerebellar Ataxia Type I	untyped SCA34 ELOVL4 variants	mechanism: Very-Long-Chain Fatty Acid Synthesis Deficiency subtype: SCA34 scoped to subtype: SCA34
Stargardt Disease	untyped Causative germline dominant negative	mechanism: Impaired ELOVL4 Very-Long-Chain Fatty Acid Elongation subtype: Stargardt disease 3 (STGD3)

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
ELOVL4-related maculopathy MONDO:0700227	AD	Definitive 2023-02-02	no dismech entry

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