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IKSHD
Chr 1ADARELOVL fatty acid elongase 1
Also known as: CGI-88, IKSHD, Ssc1
The protein enables fatty acid elongase activity and is involved in fatty acid and sphingolipid biosynthesis in the endoplasmic reticulum. Mutations cause ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facies, affecting the skin, nervous system, and craniofacial development. Inheritance can be either autosomal dominant or autosomal recessive.
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/IKSHD?content-type=application/json&expand=1
gnomad: Error: Gene not found
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
IKSHD · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →No open access results found
External Resources
Links to major genomics databases and tools