HSD17B4

Gene name: hydroxysteroid (17-beta) dehydrogenase 4
OMIM ID: 601860
Chromosome location: 5q23.1

Mutations

Disease/Phenotype	D-bifunctional protein deficiency
Reference transcript	NM_000414.3
DNA Change	c.1531T>C
A.A. Change	p.Trp511Arg
Exon/Intron	exon 18
Mutation Type	substitution
Reference	van Grunsven EG, Mooijer PA, Aubourg P, Wanders RJ.Enoyl-CoA hydratase deficiency: identification of a new type of D-bifunctional protein deficiency. Hum Mol Genet. 1999 Aug;8(8):1509-16.

---