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HLD18
Chr 1delta 4-desaturase, sphingolipid 1
Also known as: DEGS, DEGS-1, DES1, Des-1, FADS7, HLD18, MIG15, MLD
This gene encodes a member of the membrane fatty acid desaturase family which is responsible for inserting double bonds into specific positions in fatty acids. This protein contains three His-containing consensus motifs that are characteristic of a group of membrane fatty acid desaturases. It is predicted to be a multiple membrane-spanning protein localized to the endoplasmic reticulum. Overexpression of this gene inhibited biosynthesis of the EGF receptor, suggesting a possible role of a fatty acid desaturase in regulating biosynthetic processing of the EGF receptor. [provided by RefSeq, Mar 2010]
Some data sources returned errors (3)
ensembl: Error: Ensembl fetch failed: 400 for /lookup/symbol/homo_sapiens/HLD18?content-type=application/json&expand=1
gnomad: Error: Gene not found
omim: Error: OMIM fetch failed: 429
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.
External Resources
Links to major genomics databases and tools
Clinical Trials
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