HSD17B4 - hydroxysteroid 17-beta dehydrogenase 4 Gene

Homo sapiens

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

Gene ID: 3295 | Gene type: protein coding

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	Reference	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	Reference	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	Reference	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

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-120897	NS-3-008 hydrochloride	Inhibitor	99.65%	Unkown
HY-RS06397	HSD17B4 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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