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Gene

ELOVL4

ELOVL fatty acid elongase 4

Summary

Cytogenetic location
6q14.1
Coordinates
Chromosome 6: 79,914,814–79,947,553 (GRCh38)
Exons
6 exons across 32.7 kb
Protein
314 amino acids
Inheritance
Autosomal dominant
Also known as
CT118
Previous symbols
STGD2, STGD3, SCA34
MANE Select transcript
ENST00000369816.5NM_022726.4
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated reports relevant to this gene

  • Autosomal Dominant Cerebellar Ataxias (SCAs and DRPLA)

    • Autosomal Dominant Cerebellar AtaxiaAutosomal dominant

      A group of dominantly inherited ataxias, including SCA1, SCA2, SCA3 (Machado-Joseph disease), SCA6, SCA7, SCA17, SCA27B and DRPLA, caused by repeat expansions or point variants in genes such as ATXN1, ATXN2, ATXN3, CACNA1A, ATXN7, TBP, ATN1 and FGF14.

      • 3 GenCC submitters rate it definitive or strong
      What knowing changes

      Genetic counselling and presymptomatic testing for relatives, physiotherapy and symptom management; some forms, such as SCA27B, may respond to specific medication.

  • Stargardt Disease

    • ELOVL4-Related MaculopathyAutosomal dominant

      A dominant Stargardt-like macular dystrophy caused by changes in ELOVL4.

      • ClinGen rates the link definitive
      • 4 GenCC submitters rate it definitive or strong

    • An inherited macular dystrophy, most often ABCA4-related, with lipofuscin accumulation and progressive central vision loss.

      • 2 GenCC submitters rate it definitive or strong

Inheritance

Autosomal dominant
One changed copy, from either parent, is enough. A parent who has one passes it on to each child with a one-in-two chance.

How ELOVL4 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 6, with a bracket where ELOVL4 sits. ELOVL4 and 4 genes near it on chromosome 6, from 79,431,184 to 80,431,183.Chromosome 66q14.1p25.3p25.2p25.1p24.3p24.2p24.1p23p22.3p22.2p22.1p21.33p21.32p21.31p21.2p21.1p12.3p12.2p12.1p11.2p11.1q11.1q11.2q12q13q14.1q14.2q14.3q15q16.1q16.2q16.3q21q22.1q22.2q22.31q22.32q22.33q23.1q23.2q23.3q24.1q24.2q24.3q25.1q25.2q25.3q26q2779.6 Mb79.8 Mb80 Mb80.2 Mb80.4 MbLCA5: 79,484,991–79,545,138, reverse strandLCA5SH3BGRL2: 79,537,185–79,703,655, forward strandSH3BGRL2ELOVL4: 79,914,814–79,947,553, reverse strandELOVL4TTK: 80,003,887–80,043,580, forward strandTTKBCKDHB: 80,106,626–80,384,773, forward strandBCKDHBDiagram of ELOVL4: 6 exons on the reverse strand of chromosome 6Exon 6: 3 known disease-causing sitesExon 4: 3 known disease-causing sitesExon 2: 1 known disease-causing siteExon 6: 79,914,814–79,916,883, 2,070 basesExon 5: 79,919,420–79,919,547, 128 basesExon 4: 79,921,625–79,921,796, 172 basesExon 3: 79,924,952–79,925,032, 81 basesExon 2: 79,926,194–79,926,381, 188 basesExon 1: 79,947,180–79,947,553, 374 bases6543215′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 3 kb of the gene's 32.7 kb; 945 of those bases code for the protein.

How a genome test reads ELOVL4

9

positions in ELOVL4 where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 32.7 kb of ELOVL4, introns included, not only the 3 kb of exons.

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). ELOVL4 gene: ELOVL fatty acid elongase 4. Retrieved 16 October 2026, from https://dantelabs.com/genes/elovl4

Vancouver

Dante Labs. ELOVL4 gene: ELOVL fatty acid elongase 4 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/elovl4

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