DEGS1

Chr 1q42.11

delta 4-desaturase, sphingolipid 1

Aliases:: MLD, Des-1, DES1, FADS7, DEGS-1
MANE:: ENST00000323699.9

OMIM: 615843 ↗NCBI: 8560 ↗Ensembl ↗

Annotations refreshed 10 hours ago.

Predicted protein structure

AlphaFold predicted structure

DEGS1 · O15121

v62025-08-01

Predicted Aligned Error matrix for DEGS1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

96.8/ 100

Very high

323 residues

Confidence breakdown

Very high(≥ 90)96%
Confident(70–90)3%
Low(50–70)1%
Very low(< 50)0%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
White matter disorders and cerebral calcification - narrow panel
BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

leukodystrophy, hypomyelinating, 18
0.75
leukodystrophy
0.72
hereditary disease
0.38
Global developmental delay
0.37
Seizure
0.37
neurodegenerative disease
0.28
Phenotypic abnormality
0.07
alcohol drinking
0.06
progressive familial intrahepatic cholestasis
0.05
posterior cortical atrophy
0.05

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Sphingolipid delta(4)-desaturase DES1

Has sphingolipid-delta-4-desaturase activity. Converts D-erythro-sphinganine to D-erythro-sphingosine (E-sphing-4-enine) (PubMed:11937514, PubMed:30620337, PubMed:30620338). Catalyzes the equilibrium isomerization of retinols (By similarity)