HSD17B4 Gene Summary [Human]
The protein encoded by this gene is a bifunctional enzyme that is involved in the peroxisomal beta-oxidation pathway for fatty acids. It also acts as a catalyst for the formation of 3-ketoacyl-CoA intermediates from both straight-chain and 2-methyl-branched-chain fatty acids. Defects in this gene that affect the peroxisomal fatty acid beta-oxidation activity are a cause of D-bifunctional protein deficiency (DBPD). An apparent pseudogene of this gene is present on chromosome 8. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, May 2014]
Details
| Type | Nonsense Mediated Decay |
| Official Symbol | HSD17B4 |
| Official Name | hydroxysteroid 17-beta dehydrogenase 4 [Source:HGNC Symbol;Acc:HGNC:5213] |
| Ensembl ID | ENSG00000133835 |
| Bio databases IDs | |
| Aliases | hydroxysteroid 17-beta dehydrogenase 4, 17beta-estradiol dehydrogenase type IV, peroxisomal multifunctional protein 2, 17-beta-HSD IV, 17-beta-hydroxysteroid dehydrogenase 4, D-bifunctional protein, peroxisomal, D-3-hydroxyacyl-CoA dehydratase, 3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholest-24-enoyl-CoA hydratase, beta-keto-reductase, beta-hydroxyacyl dehydrogenase, short chain dehydrogenase/reductase family 8C, member 1 |
| Synonyms | 17-beta-HSD, 17-beta HSD4, 17 beta Hydroxy Steroid Dehydrogenase Isoform 4, 17[b]-HSD, 17-β-HSD, 17-β HSD4, 17 β Hydroxy Steroid Dehydrogenase Isoform 4, Bifunctional, D-bifunctional, DBP, HD, hydroxysteroid (17-beta) dehydrogenase 4, hydroxysteroid 17-beta dehydrogenase 4, hydroxysteroid (17-β) dehydrogenase 4, hydroxysteroid 17-β dehydrogenase 4, MFE-2, MFP-2, MPF-2, NS1-I, perMFE-2, Peroxisomal bifunctional, Peroxisomal bifunctional enzyme, Ph, Pmeii, PRLTS1, SDR8C1 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human HSD17B4 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Rossmann-fold NAD(P)(+)-binding proteins
- 3(or 17)beta-hydroxysteroid dehydrogenase
- 3-hydroxyacyl-CoA dehydrogenase
- estradiol 17beta-dehydrogenase
- 3-hydroxybutyrate dehydrogenase
- SCP-2 sterol transfer family
- KR domain
- pteridine reductase
- enzyme
- protein binding
- Enoyl-(Acyl carrier protein) reductase
- identical protein binding
- enoyl-CoA hydratase
- polyketide synthase keto reductase domain
- MaoC like domain
- 3-oxoacyl-(acyl-carrier-protein) reductase
- acetoacetyl-CoA reductase
- 3-hydroxyacyl-CoA dehydratase
- CH-OH group:NAD or NADP oxidoreductase
- protein homodimerization
- hot_dog
- short chain dehydrogenase
- steroid dehydrogenase
Pathways
Biological processes and signaling networks where the HSD17B4 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- liver cancer
- epithelial cancer
- multiple sclerosis
- COVID-19
- bifunctional peroxisomal enzyme deficiency
- alcoholism
- Perrault syndrome type 1
- hepatitis B virus-related hepatocellular carcinoma
- growth failure
- endometriosis
role in cell
- abnormal morphology
- development
- degeneration
- hydration in
- upregulation in
- beta-oxidation in
- dehydrogenation in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- peroxisomal matrix
- cellular membrane
- cytosol
- peroxisomes
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human HSD17B4 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- very long-chain fatty-acyl-CoA metabolic process
- medium-chain fatty-acyl-CoA metabolic process
- fatty acid beta-oxidation
- androgen metabolic process
- estrogen metabolic process
- osteoblast differentiation
- Sertoli cell development
- very long-chain fatty acid metabolic process
Cellular Component
Where in the cell the gene product is active
- peroxisomal membrane
- peroxisome
- membrane
- cytosol
- peroxisomal matrix
Molecular Function
What the gene product does at the molecular level
- estradiol 17-beta-dehydrogenase activity
- 3-hydroxyacyl-CoA dehydratase activity
- 3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity
- protein homodimerization activity
- 3-hydroxyacyl-CoA dehydrogenase activity
- 17-beta-hydroxysteroid dehydrogenase (NAD+) activity
- enoyl-CoA hydratase activity
- isomerase activity