DEGS1

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. Two splice variants have been identified. [provided by RefSeq]

Full Name

degenerative spermatocyte homolog 1, lipid desaturase (Drosophila)

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).

Biological Process

Ceramide biosynthetic process Source: GO_Central
Myelin maintenance Source: UniProtKB
Neutrophil degranulation Source: Reactome
Dphingolipid biosynthetic process Source: Reactome
Unsaturated fatty acid biosynthetic process Source: ProtInc

Cellular Location

Endoplasmic reticulum membrane; Mitochondrion membrane

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.

PTM

Myristoylation can target the enzyme to the mitochondria leading to an increase in ceramide levels.