HSD17B4
Chr 5ARhydroxysteroid 17-beta dehydrogenase 4
Also known as: DBP, MFE-2, MFP-2, MPF-2, PRLTS1, SDR8C1
The HSD17B4 protein is a bifunctional enzyme that catalyzes hydration and dehydrogenation reactions in the peroxisomal fatty acid beta-oxidation pathway, processing both straight-chain and branched-chain fatty acids. Mutations cause D-bifunctional protein deficiency, a severe peroxisomal disorder typically presenting in infancy with neurodegeneration, and Perrault syndrome 1, characterized by sensorineural hearing loss and ovarian dysgenesis. Both conditions follow autosomal recessive inheritance.
Definitive — sufficient evidence for diagnostic panels
2 total gene-disease associations curated
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Tolerant to missense variation
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
HSD17B4 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools