DEGS1
Function
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).
Involvement in disease
Leukodystrophy, hypomyelinating, 18
HLD18
An autosomal recessive disorder characterized by hypomyelinating leukodystrophy with progressive atrophy of the corpus callosum, thalami and cerebellum, and peripheral neuropathy. Clinical features include very poor psychomotor development, dystonia, severe spasticity, seizures, and failure to thrive.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
Myristoylation can target the enzyme to the mitochondria leading to an increase in ceramide levels.
Sequence Similarities
Belongs to the fatty acid desaturase type 1 family. DEGS subfamily.
Tissue Specificity
Ubiquitous.
Cellular localization
- Mitochondrion membrane
- Endoplasmic reticulum membrane
- Multi-pass membrane protein
Alternative names
DES1, MLD, MIG15, DEGS1, Sphingolipid delta(4)-desaturase DES1, Cell migration-inducing gene 15 protein, Degenerative spermatocyte homolog 1, Dihydroceramide desaturase-1, Membrane lipid desaturase, Retinol isomerase