ELOVL4 ELOVL fatty acid elongase 4
Gene ID: 6785, updated on 11-Apr-2024Gene type: protein coding
Also known as: ADMD; CT118; ISQMR; SCA34; STGD2; STGD3
- See all available tests in GTR for this gene
- Go to complete Gene record for ELOVL4
- Go to Variation Viewer for ELOVL4 variants
Summary
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Common genetic variation and susceptibility to partial epilepsies: a genome-wide association study. GeneReviews: Not available | |
| Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome | See labs |
| Genome-wide analysis of BMI in adolescents and young adults reveals additional insight into the effects of genetic loci over the life course. GeneReviews: Not available | |
| Linkage and association of successful aging to the 6q25 region in large Amish kindreds. GeneReviews: Not available | |
| Spinocerebellar ataxia type 34 | See labs |
| Stargardt disease 3 | See labs |
Genomic context
- Location:
- 6q14.1
- Sequence:
- Chromosome: 6; NC_000006.12 (79914814..79947553, complement)
- Total number of exons:
- 6
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for ELOVL4 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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