DEGS1

Chr 1AR

delta 4-desaturase, sphingolipid 1

Also known as: DEGS, DEGS-1, DES1, Des-1, FADS7, HLD18, MIG15, MLD

NCBI Gene: 8560 ENSG00000143753 UniProt: O15121 OMIM: 615843

The protein functions as a sphingolipid-delta-4-desaturase that converts sphinganine to sphingosine, catalyzing a critical step in sphingolipid biosynthesis. Biallelic mutations cause autosomal recessive leukodystrophy, hypomyelinating, 18 through disruption of sphingolipid metabolism essential for myelin formation and maintenance.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

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]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Leukodystrophy, hypomyelinating, 18MIM #618404

Clinical highlights

Gene-disease validity (ClinGen)

leukodystrophy, hypomyelinating, 18 · ARDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.78

LOEUF

LOF

Mechanism· G2P