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HLD18
Chr 1ARdelta 4-desaturase, sphingolipid 1
Also known as: DEGS, DEGS-1, DES1, Des-1, FADS7, HLD18, MIG15, MLD
The protein is a membrane fatty acid desaturase that inserts double bonds into fatty acids and is localized to the endoplasmic reticulum. Mutations cause autosomal recessive hypomyelinating leukodystrophy 18, a white matter disorder affecting myelination in the central nervous system.
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/HLD18?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
HLD18 · 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