HSD17B4 - hydroxysteroid 17-beta dehydrogenase 4 Gene

Also Known as DBP; MFE-2; MFP-2; MPF-2; PRLTS1; SDR8C1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 3295

About HSD17B4

Cytogenetic location: 5q23.1 Genomic coordinates (GRCh38): 5:119,452,497-119,542,332 (from NCBI)

This gene has 52 transcripts (splice variants), 197 orthologues, 25 paralogues and is associated with 5 phenotypes. Ubiquitous expression in liver (RPKM 94.4), thyroid (RPKM 88.0) and 25 other tissues.

Summary

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]

HSD17B4 Products (12)

mRNA	Protein	Name
NM_000414.4	NP_000405.1	peroxisomal multifunctional enzyme type 2 isoform 2
NM_001199291.3	NP_001186220.1	peroxisomal multifunctional enzyme type 2 isoform 1
NM_001199292.2	NP_001186221.1	peroxisomal multifunctional enzyme type 2 isoform 3
NM_001292027.2	NP_001278956.1	peroxisomal multifunctional enzyme type 2 isoform 4
NM_001292028.2	NP_001278957.1	peroxisomal multifunctional enzyme type 2 isoform 5
NM_001374497.1	NP_001361426.1	peroxisomal multifunctional enzyme type 2 isoform 6
NM_001374498.1	NP_001361427.1	peroxisomal multifunctional enzyme type 2 isoform 7
NM_001374499.1	NP_001361428.1	peroxisomal multifunctional enzyme type 2 isoform 8
NM_001374500.1	NP_001361429.1	peroxisomal multifunctional enzyme type 2 isoform 9
NM_001374501.1	NP_001361430.1	peroxisomal multifunctional enzyme type 2 isoform 10
NM_001374502.1	NP_001361431.1	peroxisomal multifunctional enzyme type 2 isoform 10
NM_001374503.1	NP_001361432.1	peroxisomal multifunctional enzyme type 2 isoform 10

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables 3-hydroxyacyl-CoA dehydratase activity	IDA IDA: Inferred from direct assay	9089413	GOA
enables 3-hydroxyacyl-CoA dehydrogenase activity	IDA IDA: Inferred from direct assay	9089413	GOA
enables 3-hydroxyacyl-CoA dehydrogenase activity	IMP IMP: Inferred from mutant phenotype	9482850	GOA
enables enoyl-CoA hydratase activity	IDA IDA: Inferred from direct assay	9482850	GOA
enables estradiol 17-beta-dehydrogenase [NAD(P)+] activity	IDA IDA: Inferred from direct assay	7487879	GOA
enables protein homodimerization activity	IDA IDA: Inferred from direct assay	9089413	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in androgen metabolic process	IDA IDA: Inferred from direct assay	7487879	GOA
involved in estrogen metabolic process	IDA IDA: Inferred from direct assay	7487879	GOA
involved in fatty acid beta-oxidation	IDA IDA: Inferred from direct assay	9482850	GOA
involved in medium-chain fatty-acyl-CoA metabolic process	IDA IDA: Inferred from direct assay	9089413	GOA
involved in very long-chain fatty-acyl-CoA metabolic process	IDA IDA: Inferred from direct assay	9482850	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in peroxisome	IDA IDA: Inferred from direct assay	15599942	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

HSD17B4 Protein Structure

adh_short

MaoC_dehydrat_N

MaoC_dehydratas

SCP2

0
200
400
600
736 a.a.

Protein Preferred Names	Protein Names
peroxisomal multifunctional enzyme type 2	17-beta-HSD 4

Related Diseases

Diseases	Alias
D-Bifunctional Protein Deficiency	Bifunctional Peroxisomal Enzyme Deficiency 17-Beta-Hydroxysteroid Dehydrogenase Iv Deficiency Dbp Deficiency Peroxisomal Bifunctional Enzyme Deficiency Pbfe Deficiency Bifunctional Enzyme Deficiency Pseudo-Zellweger Syndrome Zellweger-Like Syndrome DBPD Protein Deficiency, D-Bifunctional
Perrault Syndrome 1	PRLTS1 Ovarian Dysgenesis With Sensorineural Deafness Gonadal Dysgenesis Xx Type Deafness Gonadal Dysgenesis, Xx Type, With Deafness Gonadal Dysgenesis Xx Type With Deafness
Perrault Syndrome	Gonadal Dysgenesis, Xx Type, With Deafness Ovarian Dysgenesis With Sensorineural Deafness Gonadal Dysgenesis, Xx Type Gonadal Dysgenesis With Auditory Dysfunction, Autosomal Recessive Inheritance Gonadal Dysgenesis With Sensorineural Deafness, Autosomal Recessive Inheritance Xx Gonodal Dysgenesis-Deafness Syndrome Xx Gonodal Dysgenesis-Hearing Loss Syndrome Gonadal Dysgenesis Xx Type Deafness
Rhizomelic Chondrodysplasia Punctata, Type 1	Rhizomelic Chondrodysplasia Punctata Type 1 RCDP1 Peroxisome Biogenesis Disorder 9 Pbd9 Chondrodysplasia Punctata, Rhizomelic Form Cdpr Chondrodystrophia Calcificans Punctata Rhizomelic Chondrodysplasia Punctata 1 Chondrodysplasia Punctata, Rhizomelic, Type 1 Chondrodysplasia Punctata, Rhizomelic
Peroxisomal Disease	Peroxisomal Disorder Peroxisomal Disorders Peroxisomal Defects
Zellweger Syndrome	Cerebrohepatorenal Syndrome Zellweger Leukodystrophy Zs Congenital Iron Overload Chr Zws Severe Pbd-Zsd Severe Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder
Peroxisomal Acyl-Coa Oxidase Deficiency	Pseudoneonatal Adrenoleukodystrophy Straight-Chain Acyl-Coa Oxidase Deficiency Pseudoadrenoleukodystrophy PSEUDO-NALD Pseudo-Neonatal Adrenoleukodystrophy Acyl-Coa Oxidase Deficiency Peroxisomal Acyl-Coenzyme A Oxidase Acyl-Coenzyme A Oxidase Deficiency Adrenoleukodystrophy, Pseudoneonatal Deficiency, Peroxisomal Acyl-Coa Oxidase
Alpha-Methylacyl-Coa Racemase Deficiency	Amacr Deficiency AMACRD
Peroxisome Biogenesis Disorder 1b	Peroxisome Biogenesis Disorder Infantile Refsum Disease Infantile Phytanic Acid Storage Disease PBD1B Refsum Disease, Infantile Adrenoleukodystrophy, Autosomal Neonatal Ird Mild Pbd-Zsd Mild Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder Pbd-Zsd Peroxisome Biogenesis Disorder Spectrum Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder Autosomal Neonatal Adrenoleukodystrophy Refsum Disease Infantile Peroxisome Biogenesis Disorders Peroxisome Biogenesis Disorder, Type 1b
Nervous System Disease	Abnormality Of The Nervous System Nervous System Diseases Nervous System Disorder
Adrenoleukodystrophy	X-Linked Adrenoleukodystrophy ALD Siemerling-Creutzfeldt Disease X-Ald X-Linked Cerebral Adrenoleukodystrophy Bronze Schilder Disease Melanodermic Leukodystrophy Addison Disease And Cerebral Sclerosis Adrenomyeloneuropathy, Adult Diffuse Sclerosis X-Cald Adrenomyeloneuropathy Encephalitis Periaxialis Concentrica Encephalitis Periaxialis, Schilder'S Sudanophilic Cerebral Sclerosis Ald Childhood Cerebral Form Adrenoleukodystrophy X-Linked Cerebral Form Adrenoleukodystrophy Childhood Cerebral Form Childhood Cerebral Ald Schilder Disease X-Linked Ald Adrenoleukodystrophy, X-Linked Amn Diffuse Cerebral Sclerosis Of Schilder Systemic Scleroderma Balo'S Concentric Sclerosis Ald - [Adrenoleukodystrophy] Addison-Schilder
Congenital Nervous System Abnormality	Congenital Neurologic Anomaly Congenital Nervous System Disorder
Rare Genetic Deafness	Rare Genetic Hearing Loss
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3	PEOA3 Autosomal Dominant Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions 3 Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant, 3 Chronic Progressive External Ophthalmoplegia Progressive External Ophthalmoplegia, Autosomal Dominant 3 Autosomal Dominant Progressive External Ophthalmoplegia 3 Cpeo Graefe Disease Mitochondrial Ocular Myopathy Ocular Myopathy Of Von Graefe-Fuchs Progressive External Ophthalmoplegia Autosomal Dominant 3 Progressive External Ophthalmoplegia, Autosomal Dominant, 3 Ophthalmoplegia, External, Progressive, With Mitochondrial Dna Deletions, Autosomal Dominant, Type 3 Kearns-Sayre Syndrome
46 Xx Gonadal Dysgenesis	Ovarian Dysgenesis Gonadal Dysgenesis, 46,Xx Dysgenesis, Ovarian
Refsum Disease, Classic	Refsum Disease Heredopathia Atactica Polyneuritiformis Phytanic Acid Oxidase Deficiency Hmsn Iv Refsum Disease, Adult, 1 Refsum'S Disease Phytanic Acid Storage Disease Hereditary Motor And Sensory Neuropathy Iv Hmsn4 Hmsn Type Iv Hmsn 4 Adult Refsum Disease Classic Refsum Disease Hereditary Motor And Sensory Neuropathy Type Iv Refsum Syndrome Hsmn Iv Disorder Of Cornification 11 Doc 11 Hereditary Sensory And Motor Neuropathy Type 4 Hypertrophic Neuropathy Of Refsum Ard Crd Hereditary Motor And Sensory Neuropathy Type 4 Phytanic-Coa Hydroxylase Deficiency RD
Peroxisomal Biogenesis Disorder	Zellweger Spectrum Disorders Peroxisome Biogenesis Disorder-Zellweger Syndrome Spectrum Disorders Of Peroxisome Biogenesis Zellweger Spectrum Zellweger Syndrome Spectrum Peroxisomal Biogenesis Disorders Pbd, Zss Pbd-Zsd Pbd-Zss Pbd-Zellweger Spectrum Disorder Peroxisomal Biogenesis Disorders, Zellweger Syndrome Spectrum Peroxisome Biogenesis Disorder Peroxisome Biogenesis Disorder Spectrum Peroxisome Biogenesis Disorders Zellweger Spectrum Disorder Hyperpipecolic Acidaemia
Multiple Synostoses Syndrome	Symphalangism-Brachydactyly Syndrome Deafness-Hermann Type Symphalangism Syndrome Facio-Audio-Symphalangism Hearing Loss-Hermann Type Symphalangism Syndrome Wl Syndrome Multiple Synostosis Syndrome
Polyhydramnios
Leukodystrophy, Hypomyelinating, 5	Hypomyelination And Congenital Cataract HLD5 Hypomyelination-Congenital Cataract Syndrome Hypomyelinating Leukodystrophy 5 Hcc Hypomyelination And Congenital Cataract: Hcc Hypomyelination - Congenital Cataract Hypomyelination With Congenital Cataract
Leukodystrophy, Hypomyelinating, 3	Hypomyelinating Leukodystrophy 3 HLD3 Pelizaeus-Merzbacher-Like Disease Due To Aimp1 Mutation Leukodystrophy, Hypomyelinating 3 Perinatal Sudanophilic Leukodystrophy Leukodystrophy, Hypomyelinating, Type 3 Pelizaeus-Merzbacher-Like Disease, Autosomal Recessive, 2
Rhizomelic Chondrodysplasia Punctata	Chondrodysplasia Punctata, Rhizomelic Rcdp Chondrodysplasia Punctata, Rhizomelic Form Rcp Chondrodysplasia Punctata Rhizomelic
Asperger Syndrome	Asperger Disorder Asperger Syndrome, Susceptibility To
Premature Menopause	Primary Ovarian Insufficiency Premature Ovarian Failure Hypergonadotropic Hypogonadism Premature Ovarian Insufficiency Menopause - Premature Menopause Praecox Menopause Premature Menopause, Premature Female Hypergonadotropic Hypogonadism Hypergonadotrophic Ovarian Failure Primary Female Hypogonadism Pof - [Premature Ovarian Failure] Ovarian Failure Ovarian Secretion Suppression Ovary Hyposecretion Ovary Secretion Deficiency Premature Menopause Nos
Sensorineural Hearing Loss	Sensory Hearing Loss Sensorineural Deafness Sensorineural Hearing Loss Disorder Hearing Loss, Sensorineural Central Hearing Loss High Frequency Deafness High Frequency Hearing Loss High-Frequency Hearing Loss Perceptive Deafness Perceptive Hearing Loss Perceptive Hearing Loss Or Deafness Hearing Loss Sensorineural Deafness Sensorineural Hearing Loss High-Frequency Hearing Loss, Central Hearing Loss, High-Frequency
Retinitis Pigmentosa	RP Rod-Cone Dystrophy Autosomal Recessive Retinitis Pigmentosa Non-Syndromic Retinitis Pigmentosa Pericentral Pigmentary Retinopathy Pigmentary Retinopathy Tapetoretinal Degeneration Rcd Retinitis Pigmentosa Autosomal Recessive ARRP Retinitis Pigmentosa, Autosomal Recessive Retinitis Pigmentosa 1

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (4)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-120897	NS-3-008 hydrochloride	Inhibitor	99.67%	Unkown
HY-RS06397	HSD17B4 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS20632	Hsd17b4 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS27141	Hsd17b4 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	HSD17B4	VGNC	VGNC:67659
Macaca mulatta	HSD17B4	VGNC	VGNC:73530
Bos taurus	HSD17B4	VGNC	VGNC:29975
Rattus norvegicus	HSD17B4	RGD	RGD:621806
Canis familiaris	HSD17B4	VGNC	VGNC:41807
Mus musculus	HSD17B4	MGD	MGI:105089
Others	HSD17B4	NCBI