ELOVL4

Chr 6ARAD

ELOVL fatty acid elongase 4

Also known as: ADMD, CT118, ISQMR, SCA34, STGD2, STGD3

NCBI Gene: 6785 ENSG00000118402 UniProt: Q9GZR5 OMIM: 605512

The protein catalyzes the rate-limiting step in very long-chain fatty acid elongation, synthesizing saturated and polyunsaturated fatty acids that serve as precursors for membrane lipids critical in early brain and skin development. Mutations cause autosomal dominant Stargardt disease 3 (retinal dystrophy), autosomal recessive spinocerebellar ataxia 34, and autosomal recessive ichthyosis with spastic quadriplegia and intellectual disability. The gene is highly constrained against loss-of-function variants, reflecting its essential role in neurodevelopment and retinal function.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a membrane-bound protein which is a member of the ELO family, proteins which participate in the biosynthesis of fatty acids. Consistent with the expression of the encoded protein in photoreceptor cells of the retina, mutations and small deletions in this gene are associated with Stargardt-like macular dystrophy (STGD3) and autosomal dominant Stargardt-like macular dystrophy (ADMD), also referred to as autosomal dominant atrophic macular degeneration. [provided by RefSeq, Jul 2008]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Ichthyosis, spastic quadriplegia, and impaired intellectual developmentMIM #614457

Spinocerebellar ataxia 34MIM #133190

Stargardt disease 3MIM #600110

Clinical highlights

Gene-disease validity (ClinGen)

ELOVL4-related maculopathy · ADDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.41

LOEUF

LOF

Mechanism· G2P