HSD17B4
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.
Full Name
hydroxysteroid (17-beta) dehydrogenase 4
Function
Bifunctional enzyme acting on the peroxisomal beta-oxidation pathway for fatty acids. Catalyzes the formation of 3-ketoacyl-CoA intermediates from straight-chain, 2-methyl-branched-chain fatty acids bile acid intermediates. With EHHADH, catalyzes the hydration of trans-2-enoyl-CoA and the dehydrogenation of 3-hydroxyacyl-CoA, but with opposite chiral specificity (PubMed:10671535).
Biological Process
Androgen metabolic process Source: UniProtKB
Estrogen metabolic process Source: UniProtKB
Fatty acid beta-oxidation Source: UniProtKB
Medium-chain fatty-acyl-CoA metabolic process Source: UniProtKB
Osteoblast differentiation Source: UniProtKB
Sertoli cell development Source: Ensembl
Very long-chain fatty acid metabolic process Source: Ensembl
Very long-chain fatty-acyl-CoA metabolic process Source: UniProtKB
Estrogen metabolic process Source: UniProtKB
Fatty acid beta-oxidation Source: UniProtKB
Medium-chain fatty-acyl-CoA metabolic process Source: UniProtKB
Osteoblast differentiation Source: UniProtKB
Sertoli cell development Source: Ensembl
Very long-chain fatty acid metabolic process Source: Ensembl
Very long-chain fatty-acyl-CoA metabolic process Source: UniProtKB
Cellular Location
Peroxisome
Involvement in disease
D-bifunctional protein deficiency (DBPD):
Disorder of peroxisomal fatty acid beta-oxidation.
Perrault syndrome 1 (PRLTS1):
A sex-influenced disorder characterized by sensorineural deafness in both males and females and ovarian dysgenesis in females. Some patients also have neurologic manifestations, including mild mental retardation and cerebellar and peripheral nervous system involvement.
Disorder of peroxisomal fatty acid beta-oxidation.
Perrault syndrome 1 (PRLTS1):
A sex-influenced disorder characterized by sensorineural deafness in both males and females and ovarian dysgenesis in females. Some patients also have neurologic manifestations, including mild mental retardation and cerebellar and peripheral nervous system involvement.
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Anti-HSD17B4 antibodies
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CompareTarget: HSD17B4
Host: Mouse
Antibody Isotype: IgG3
Specificity: Human
Clone: CBFYH-2013
Application*: E, IF, IP
Target: HSD17B4
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human
Clone: CBFYH-2012
Application*: IF, WB
Target: HSD17B4
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human
Clone: CBFYH-2010
Application*: IF, P, WB
Target: HSD17B4
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human
Clone: CBFYH-2009
Application*: WB, IH, IF
Target: HSD17B4
Host: Mouse
Antibody Isotype: IgG3
Specificity: Human
Clone: CBFYH-3207
Application*: IP
Target: HSD17B4
Host: Mouse
Antibody Isotype: IgG2a
Specificity: Human
Clone: CBFYH-3206
Application*: WB, IP, IF
Target: HSD17B4
Sensitivity: 0.0041 ng/mL
Detection Range: 0.01-2 ng/mL
Sample Type: Serum, Plasma, cell culture supernates
Specificity: Human
Assay Type: Sandwich
Reactivity: Human
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For Research Use Only. Not For Clinical Use.
(P): Predicted
* Abbreviations
- AActivation
- AGAgonist
- APApoptosis
- BBlocking
- BABioassay
- BIBioimaging
- CImmunohistochemistry-Frozen Sections
- CIChromatin Immunoprecipitation
- CTCytotoxicity
- CSCostimulation
- DDepletion
- DBDot Blot
- EELISA
- ECELISA(Cap)
- EDELISA(Det)
- ESELISpot
- EMElectron Microscopy
- FFlow Cytometry
- FNFunction Assay
- GSGel Supershift
- IInhibition
- IAEnzyme Immunoassay
- ICImmunocytochemistry
- IDImmunodiffusion
- IEImmunoelectrophoresis
- IFImmunofluorescence
- IGImmunochromatography
- IHImmunohistochemistry
- IMImmunomicroscopy
- IOImmunoassay
- IPImmunoprecipitation
- ISIntracellular Staining for Flow Cytometry
- LALuminex Assay
- LFLateral Flow Immunoassay
- MMicroarray
- MCMass Cytometry/CyTOF
- MDMeDIP
- MSElectrophoretic Mobility Shift Assay
- NNeutralization
- PImmunohistologyp-Paraffin Sections
- PAPeptide Array
- PEPeptide ELISA
- PLProximity Ligation Assay
- RRadioimmunoassay
- SStimulation
- SESandwich ELISA
- SHIn situ hybridization
- TCTissue Culture
- WBWestern Blot
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