ELOVL1 ELOVL fatty acid elongase 1

Gene ID: 64834, updated on 4-Jan-2025
Gene type: protein coding
Also known as: Ssc1; IKSHD; CGI-88

Summary

Enables fatty acid elongase activity. Involved in fatty acid biosynthetic process and sphingolipid biosynthetic process. Located in endoplasmic reticulum. [provided by Alliance of Genome Resources, Jan 2025]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features MedGen: C5193147OMIM: 618527GeneReviews: Not available	See labs

Genomic context

Location:: 1p34.2

Sequence:: Chromosome: 1; NC_000001.11 (43363401..43368011, complement)

Total number of exons:: 9

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for ELOVL1 variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
Variation Viewer
Related Variants

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