HSD17B4 Gene - Hydroxysteroid 17-Beta Dehydrogenase 4
Multifunctional Peroxisomal Enzyme Involved in Fatty Acid Beta-Oxidation and Steroid Metabolism
Gene Information Card
| Symbol | HSD17B4 |
|---|---|
| Full Name | Hydroxysteroid 17-Beta Dehydrogenase 4 |
| Gene Type | Protein coding |
| Chromosomal Location | 5q23.1 |
| NCBI Gene ID | 3295 ncbi.nlm.nih.gov/gene/3295 |
| Ensembl ID | ENSG00000133835 |
| UniProt ID | P51659 |
| OMIM ID | 601860 |
| HGNC ID | 5213 |
| Aliases | DBP, D-Bifunctional Protein, MFE-2, SDR8C1, 17-beta-HSD 4 |
Description
The HSD17B4 gene encodes 17-beta-hydroxysteroid dehydrogenase 4, also known as D-bifunctional protein (DBP). This peroxisomal enzyme catalyzes the second and third steps of peroxisomal beta-oxidation of fatty acids and also participates in steroid hormone metabolism. Mutations in HSD17B4 cause D-bifunctional protein deficiency, a peroxisomal disorder characterized by impaired very long-chain fatty acid oxidation, leading to neurological and developmental abnormalities.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| D-Bifunctional Protein Deficiency | Loss-of-function mutations impair peroxisomal beta-oxidation of very long-chain fatty acids, leading to accumulation of toxic metabolites | ClinVar, OMIM |
| Peroxisomal Biogenesis Disorder (Zellweger Syndrome Spectrum) | Deficiency in DBP disrupts peroxisomal fatty acid oxidation, contributing to the Zellweger phenotype | OMIM |
| 17-Beta-Hydroxysteroid Dehydrogenase IV Deficiency | Impaired steroid metabolism due to enzyme deficiency, affecting sex hormone synthesis | UniProt, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | High |
| Kidney | 8.3 | Medium |
| Heart | 6.1 | Medium |
| Brain | 4.2 | Low |
| Testis | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 10.2 | Hepatocellular carcinoma cell line |
| HEK293 | 7.5 | Embryonic kidney cells |
| SH-SY5Y | 5.0 | Neuroblastoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.302G>A (p.Arg101Gln) | Missense | Rare | Reduced enzyme activity; associated with DBP deficiency |
| c.740G>A (p.Arg247His) | Missense | Rare | Impaired peroxisomal targeting; loss of function |
| c.1129C>T (p.Arg377Trp) | Missense | Rare | Severe enzyme deficiency; neonatal onset |
Mutation functional classification
Loss of Function (LOF)
Most reported missense and nonsense mutations lead to loss of enzymatic activity in peroxisomal beta-oxidation.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative effects described; disease is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • 3-hydroxyacyl-CoA dehydrogenase activity (GO:0003854) | • estradiol 17-beta-dehydrogenase activity (GO:0004303) |
| • peroxisome (GO:0005777) | • fatty acid beta-oxidation (GO:0006635) |
| • steroid biosynthetic process (GO:0006694) |
Pathways
• Peroxisomal beta-oxidation of very long chain fatty acids
• Bile acid biosynthesis
• Steroid hormone metabolism
Protein Summary
HSD17B4 encodes a 736-amino acid peroxisomal enzyme (UniProt P51659) with three functional domains: an N-terminal dehydrogenase domain, a central hydratase domain, and a C-terminal sterol carrier protein domain. The protein functions as a homodimer and is essential for the beta-oxidation of very long-chain fatty acids and bile acid intermediates. Defects cause D-bifunctional protein deficiency, a severe peroxisomal disorder.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| HSD17B4 Knockout HEK293 Cell Line | EDJ-KQ4941 | Human | 3295 | Details Get a Quote |
| HSD17B4 Knockout A-549 Cell Line | EDJ-KQ27792 | Human | 3295 | Details Get a Quote |
| HSD17B4 Knockout HCT 116 Cell Line | EDJ-KQ27793 | Human | 3295 | Details Get a Quote |
| HSD17B4 Knockout HeLa Cell Line | EDJ-KQ27794 | Human | 3295 | Details Get a Quote |
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