C114365Level 5
HSD17B4 wt Allele
**Semantic type:** Gene or Genome
**Definition:** Human HSD17B4 wild-type allele is located in the vicinity of 5q21 and is approximately 185 kb in length. This allele, which encodes peroxisomal multifunctional enzyme type 2 protein, plays a role in the oxidation of fatty acids. Mutation of the gene is associated with D-bifunctional protein deficiency and Perrault syndrome 1.
**Synonyms:** - DBP - EDH17B4 - Hydroxysteroid (17-Beta) Dehydrogenase 4 wt Allele - MFE-2 - MPF-2 - PRLTS1 - SDR8C1
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Cross-system equivalences0
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