DEGS1

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Description

The DEGS1 (delta 4-desaturase, sphingolipid 1) is a protein-coding gene located on chromosome 1.

DEGS1 exhibits sphingolipid-delta-4-desaturase activity, converting D-erythro-sphinganine to D-erythro-sphingosine (E-sphing-4-enine) (PubMed:11937514, PubMed:30620337, PubMed:30620338). It also catalyzes the equilibrium isomerization of retinols (By similarity). {ECO:0000250|UniProtKB:Q5F3C1, ECO:0000269|PubMed:11937514, ECO:0000269|PubMed:30620337, ECO:0000269|PubMed:30620338}

DEGS1 is also known as DEGS, DEGS-1, DES1, Des-1, FADS7, HLD18, MIG15, MLD.

Associated Diseases

• Leukodystrophy, hypomyelinating, 18