Disease-gene associations mined from literature

Literature associating HSD17B4 and hypomyelinating leukodystrophy 5

HSD17B4 [ENSP00000420914]

Short chain dehydrogenase/reductase family 8C member 1; Bifunctional enzyme acting on the peroxisomal beta- oxidation pathway for fatty acids. Catalyzes the formation of 3- ketoacyl-CoA intermediates from both straight-chain and 2-methyl- branched-chain fatty acids; Short chain dehydrogenase/reductase superfamily

Synonyms:  HSD17B4,  HSD17B4p,  hHSD17B4,  E7EPL9,  E7ER27 ...

Linkouts:  STRING  Pharos  UniProt  OMIM