DISEASES

Disease-gene associations mined from literature

Literature associating DEGS1 and hypomyelinating leukodystrophy

DEGS1 [ENSP00000316476]

Cell migration-inducing gene 15 protein; Has sphingolipid-delta-4-desaturase activity. Converts D-erythro-sphinganine to D-erythro-sphingosine (E-sphing-4-enine); Fatty acid desaturases

Synonyms:  DEGS1,  DEGS1p,  hDEGS1,  A0A024R3P1,  E7EMA0 ...

Linkouts:  STRING  Pharos  UniProt  OMIM