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Aliases for HSD17B4 Gene

Aliases for HSD17B4 Gene

  • Hydroxysteroid 17-Beta Dehydrogenase 4 2 3 5
  • 17-Beta-Hydroxysteroid Dehydrogenase 4 2 3 4
  • 3-Alpha,7-Alpha,12-Alpha-Trihydroxy-5-Beta-Cholest-24-Enoyl-CoA Hydratase 2 3
  • Short Chain Dehydrogenase/Reductase Family 8C Member 1 3 4
  • 17beta-Estradiol Dehydrogenase Type IV 2 3
  • Peroxisomal Multifunctional Protein 2 2 3
  • D-Bifunctional Protein, Peroxisomal 2 3
  • D-3-Hydroxyacyl-CoA Dehydratase 2 3
  • Beta-Hydroxyacyl Dehydrogenase 2 3
  • Multifunctional Protein 2 3 4
  • Beta-Keto-Reductase 2 3
  • 17-Beta-HSD IV 2 3
  • 17-Beta-HSD 4 3 4
  • SDR8C1 3 4
  • MFE-2 3 4
  • MPF-2 3 4
  • DBP 3 4
  • Short Chain Dehydrogenase/Reductase Family 8C, Member 1 2
  • Peroxisomal Multifunctional Enzyme Type 2 3
  • Hydroxysteroid (17-Beta) Dehydrogenase 4 2
  • Hydroxysteroid Dehydrogenase 4 3
  • D-Bifunctional Protein 4
  • EDH17B4 4
  • PRLTS1 3

External Ids for HSD17B4 Gene

Previous GeneCards Identifiers for HSD17B4 Gene

  • GC05P118490
  • GC05P119186
  • GC05P118819
  • GC05P118864
  • GC05P118816
  • GC05P113983
  • GC05P118789

Summaries for HSD17B4 Gene

Entrez Gene Summary for HSD17B4 Gene

  • 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]

GeneCards Summary for HSD17B4 Gene

HSD17B4 (Hydroxysteroid 17-Beta Dehydrogenase 4) is a Protein Coding gene. Diseases associated with HSD17B4 include D-Bifunctional Protein Deficiency and Perrault Syndrome 1. Among its related pathways are Peroxisomal lipid metabolism and alpha-linolenic (omega3) and linoleic (omega6) acid metabolism. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and oxidoreductase activity. An important paralog of this gene is SCP2.

UniProtKB/Swiss-Prot for HSD17B4 Gene

  • Bifunctional enzyme acting on the peroxisomal beta-oxidation pathway for fatty acids. Catalyzes the formation of 3-ketoacyl-CoA intermediates from both straight-chain and 2-methyl-branched-chain fatty acids.

Gene Wiki entry for HSD17B4 Gene

Additional gene information for HSD17B4 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HSD17B4 Gene

Genomics for HSD17B4 Gene

GeneHancer (GH) Regulatory Elements for HSD17B4 Gene

Promoters and enhancers for HSD17B4 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH05J119451 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 662.2 +0.5 518 2.2 HDGF PKNOX1 FOXA2 MLX ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 HSD17B4 FAM170A RPL21P58
GH05J119417 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE dbSUPER 671.5 -33.0 -32987 3.5 HDAC1 YBX3 PKNOX1 FOXA2 NFIB ZNF766 ATF7 IKZF2 SMAD5 GTF2B HSD17B4 FAM170A DTWD2 PTMAP2 GC05P119446 LOC102723444
GH05J119476 Promoter 0.6 EPDnew 650.3 +24.1 24113 0.1 EZH2 HSD17B4 RPL21P58
GH05J119413 Enhancer 1.1 Ensembl ENCODE dbSUPER 21.2 -38.1 -38097 1.1 CHAMP1 CC2D1A ATF7 IKZF2 ZNF687 SOX6 TRIM22 DPF2 ATF2 ZNF592 HSD17B4 DTWD2 GC05P119446 LOC102723444
GH05J119410 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 11.2 -40.7 -40675 2.1 PKNOX1 ATF1 ARNT ARID4B SIN3A ZNF2 ZNF213 ARID2 ZNF143 ATF7 TNFAIP8 DTWD2 ENSG00000250678 RNU6-373P HSD17B4 FAM170A DMXL1 GC05P119446 LOC102723444
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around HSD17B4 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the HSD17B4 gene promoter:
  • p53
  • STAT1
  • PPAR-gamma2
  • PPAR-gamma1
  • ER-alpha
  • TGIF
  • AP-2rep
  • Pax-2a
  • Pax-2

Genomic Locations for HSD17B4 Gene

Genomic Locations for HSD17B4 Gene
184,757 bases
Plus strand
184,757 bases
Plus strand

Genomic View for HSD17B4 Gene

Genes around HSD17B4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HSD17B4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HSD17B4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HSD17B4 Gene

Proteins for HSD17B4 Gene

  • Protein details for HSD17B4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Peroxisomal multifunctional enzyme type 2
    Protein Accession:
    Secondary Accessions:
    • B4DNV1
    • B4DVS5
    • E9PB82
    • F5HE57

    Protein attributes for HSD17B4 Gene

    736 amino acids
    Molecular mass:
    79686 Da
    Quaternary structure:
    • Homodimer.
    • The protein is found both as a full-length peptide and in a cleaved version.

    Three dimensional structures from OCA and Proteopedia for HSD17B4 Gene

    Alternative splice isoforms for HSD17B4 Gene


neXtProt entry for HSD17B4 Gene

Post-translational modifications for HSD17B4 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

No data available for DME Specific Peptides for HSD17B4 Gene

Domains & Families for HSD17B4 Gene

Gene Families for HSD17B4 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for HSD17B4 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the short-chain dehydrogenases/reductases (SDR) family.
  • Belongs to the short-chain dehydrogenases/reductases (SDR) family.
genes like me logo Genes that share domains with HSD17B4: view

Function for HSD17B4 Gene

Molecular function for HSD17B4 Gene

UniProtKB/Swiss-Prot Function:
Bifunctional enzyme acting on the peroxisomal beta-oxidation pathway for fatty acids. Catalyzes the formation of 3-ketoacyl-CoA intermediates from both straight-chain and 2-methyl-branched-chain fatty acids.
UniProtKB/Swiss-Prot CatalyticActivity:
(R)-3-hydroxyacyl-CoA + NAD(+) = 3-oxoacyl-CoA + NADH.
UniProtKB/Swiss-Prot CatalyticActivity:
(24R,25R)-3-alpha,7-alpha,12-alpha,24-tetrahydroxy-5-beta-cholestanoyl-CoA = (24E)-3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholest-24-enoyl-CoA + H(2)O.
UniProtKB/Swiss-Prot CatalyticActivity:
(3R)-3-hydroxyacyl-CoA = (2E)-2-enoyl-CoA + H(2)O.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=10 uM for D-3-hydroxy-octanoyl-CoA {ECO:0000269 PubMed:9089413}; KM=13 uM for NAD {ECO:0000269 PubMed:9089413}; KM=2.7 uM for 3-ketooctanoyl-CoA {ECO:0000269 PubMed:9089413}; KM=5.4 uM for NADH {ECO:0000269 PubMed:9089413}; Vmax=8.8 umol/min/mg enzyme {ECO:0000269 PubMed:9089413};
GENATLAS Biochemistry:
17 beta-hydroxysteroid dehydrogenase type 4,widely expressed,mainly in liver,heart,testis,prostate,multifunctional enzyme localized in the peroxisome,involved in steroid inactivation,stimulated by progesterone,also displaying an intrinsic fatty acid CoA hydratase and sterol transfer activities,playing an essential role in the formation of active intracellular sex steroids

Phenotypes From GWAS Catalog for HSD17B4 Gene

Gene Ontology (GO) - Molecular Function for HSD17B4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003857 3-hydroxyacyl-CoA dehydrogenase activity TAS --
GO:0005102 signaling receptor binding IPI 20178365
GO:0016491 oxidoreductase activity IEA --
GO:0016508 long-chain-enoyl-CoA hydratase activity TAS --
GO:0016829 lyase activity IEA --
genes like me logo Genes that share ontologies with HSD17B4: view
genes like me logo Genes that share phenotypes with HSD17B4: view

Human Phenotype Ontology for HSD17B4 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for HSD17B4 Gene

MGI Knock Outs for HSD17B4:

Animal Model Products

miRNA for HSD17B4 Gene

miRTarBase miRNAs that target HSD17B4

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for HSD17B4 Gene

Localization for HSD17B4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for HSD17B4 Gene


Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for HSD17B4 gene
Compartment Confidence
peroxisome 5
mitochondrion 3
cytosol 2
nucleus 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for HSD17B4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA --
GO:0005777 peroxisome IDA,NAS 7487879
GO:0005778 peroxisomal membrane HDA 21525035
GO:0005782 peroxisomal matrix TAS --
GO:0016020 membrane HDA 16210410
genes like me logo Genes that share ontologies with HSD17B4: view

Pathways & Interactions for HSD17B4 Gene

genes like me logo Genes that share pathways with HSD17B4: view

UniProtKB/Swiss-Prot P51659-DHB4_HUMAN

  • Pathway: Lipid metabolism; fatty acid beta-oxidation.

Gene Ontology (GO) - Biological Process for HSD17B4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001649 osteoblast differentiation HDA 16210410
GO:0006629 lipid metabolic process IEA --
GO:0006631 fatty acid metabolic process IEA --
GO:0006635 fatty acid beta-oxidation IDA,IEA 10400999
GO:0006699 bile acid biosynthetic process TAS --
genes like me logo Genes that share ontologies with HSD17B4: view

No data available for SIGNOR curated interactions for HSD17B4 Gene

Drugs & Compounds for HSD17B4 Gene

(10) Drugs for HSD17B4 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
NADH Approved Nutra Target 0
Water Approved Pharma 0
3r-Hydroxydecanoyl-Coa Experimental Pharma Target 0
Acetoacetyl-CoA Experimental Pharma 0
NAD Pharma Full agonist, Agonist, Activator 0

(28) Additional Compounds for HSD17B4 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • (S)-3-Hydroxydodecanoyl-coenzyme A
  • (S)-3-Hydroxylauroyl-CoA
  • (S)-3-Hydroxylauroyl-coenzyme A
  • (S)-3-Hydroxyhexadecanoyl-coenzyme A
  • (S)-3-Hydroxypalmitoyl-coenzyme A
  • b-Hydroxypalmitoyl-CoA
  • b-Hydroxypalmitoyl-coenzyme A
  • beta-Hydroxypalmitoyl-CoA
  • (S)-3-Hydroxytetradecanoyl-coa.
  • (S)-3-Hydroxytetradecanoyl-coenzyme A.
  • (S)-3-Hydroxydecanoyl-CoA
  • (S)-3-Hydroxydecanoyl-coenzyme A
  • 3-Hydroxydecanoyl-CoA
  • 3-Hydroxydecanoyl-coenzyme A
  • 3S-Hydroxy-decanoyl-CoA
  • (S)-3-Hydroxycaproyl-CoA
  • (S)-3-Hydroxycaproyl-coenzyme A
  • (S)-Hydroxyhexanoyl-CoA
  • 3-Hydroxyhexanoyl-coenzyme A
genes like me logo Genes that share compounds with HSD17B4: view

Transcripts for HSD17B4 Gene

Unigene Clusters for HSD17B4 Gene

Hydroxysteroid (17-beta) dehydrogenase 4:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for HSD17B4 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b · 10c ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^ 15a · 15b ^ 16a · 16b · 16c ^
SP1: - - - - -
SP2: - - - - - - -
SP3: - -
SP5: - -
SP6: -

ExUns: 17a · 17b ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23a · 23b ^ 24 ^ 25a · 25b ^ 26 ^ 27a · 27b ^ 28a · 28b
SP1: - - - -
SP4: - -

Relevant External Links for HSD17B4 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for HSD17B4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for HSD17B4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for HSD17B4 Gene

This gene is overexpressed in Liver (x4.0).

Protein differential expression in normal tissues from HIPED for HSD17B4 Gene

This gene is overexpressed in Liver (12.2), Fetal Liver (7.3), and Adrenal (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for HSD17B4 Gene

Protein tissue co-expression partners for HSD17B4 Gene

NURSA nuclear receptor signaling pathways regulating expression of HSD17B4 Gene:


SOURCE GeneReport for Unigene cluster for HSD17B4 Gene:


mRNA Expression by UniProt/SwissProt for HSD17B4 Gene:

Tissue specificity: Present in many tissues with highest concentrations in liver, heart, prostate and testis.

Evidence on tissue expression from TISSUES for HSD17B4 Gene

  • Nervous system(5)
  • Liver(4.7)
  • Lung(4.4)
  • Spleen(4.4)
  • Kidney(2.9)
  • Intestine(2.6)
  • Skin(2.3)
  • Thyroid gland(2.1)
  • Adrenal gland(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for HSD17B4 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • digestive
  • endocrine
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Head and neck:
  • brain
  • cerebellum
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • inner ear
  • jaw
  • lip
  • mandible
  • maxilla
  • middle ear
  • mouth
  • neck
  • nose
  • outer ear
  • pituitary gland
  • skull
  • breast
  • chest wall
  • clavicle
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
  • abdominal wall
  • adrenal gland
  • biliary tract
  • gallbladder
  • kidney
  • liver
  • pancreas
  • ovary
  • pelvis
  • penis
  • placenta
  • prostate
  • testicle
  • uterus
  • vagina
  • vulva
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with HSD17B4: view

Orthologs for HSD17B4 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for HSD17B4 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia HSD17B4 34 33
  • 99.64 (n)
(Canis familiaris)
Mammalia HSD17B4 34 33
  • 88.72 (n)
(Bos Taurus)
Mammalia HSD17B4 34 33
  • 88.22 (n)
(Rattus norvegicus)
Mammalia Hsd17b4 33
  • 85.17 (n)
(Mus musculus)
Mammalia Hsd17b4 16 34 33
  • 84.76 (n)
(Monodelphis domestica)
Mammalia HSD17B4 34
  • 77 (a)
(Ornithorhynchus anatinus)
Mammalia HSD17B4 34
  • 70 (a)
(Gallus gallus)
Aves HSD17B4 34 33
  • 72.81 (n)
(Anolis carolinensis)
Reptilia HSD17B4 34
  • 64 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia hsd17b4 33
  • 70.72 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.25981 33
(Danio rerio)
Actinopterygii hsd17b4 34 33
  • 64.32 (n)
zgc55545 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10838 33
fruit fly
(Drosophila melanogaster)
Insecta Mfe2 34 33
  • 54.22 (n)
CG3415 35
  • 51 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008667 33
  • 53.66 (n)
(Caenorhabditis elegans)
Secernentea dhs-28 33
  • 55.05 (n)
E04F6.3 35
  • 52 (a)
maoc-1 34
  • 45 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E13817g 33
  • 51.13 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGL060W 33
  • 51.07 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes FOX2 36 34 33
  • 49.91 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons ECH2 33
  • 49.09 (n)
(Oryza sativa)
Liliopsida Os09g0544900 33
  • 49.08 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU08828 33
  • 52.83 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 49 (a)
Species where no ortholog for HSD17B4 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for HSD17B4 Gene

Gene Tree for HSD17B4 (if available)
Gene Tree for HSD17B4 (if available)
Evolutionary constrained regions (ECRs) for HSD17B4: view image

Paralogs for HSD17B4 Gene

Paralogs for HSD17B4 Gene

(4) SIMAP similar genes for HSD17B4 Gene using alignment to 6 proteins:

  • E7ER27_HUMAN
  • E7ET17_HUMAN
  • G5E9S2_HUMAN Pseudogenes for HSD17B4 Gene

genes like me logo Genes that share paralogs with HSD17B4: view

Variants for HSD17B4 Gene

Sequence variations from dbSNP and Humsavar for HSD17B4 Gene

SNP ID Clin Chr 05 pos Variation AA Info Type
rs1057516269 likely-pathogenic, Bifunctional peroxisomal enzyme deficiency 119,496,546(+) C/G coding_sequence_variant, stop_gained
rs1057516273 likely-pathogenic, Bifunctional peroxisomal enzyme deficiency 119,514,979(+) A/C splice_acceptor_variant
rs1057516310 likely-pathogenic, Bifunctional peroxisomal enzyme deficiency 119,479,003(+) CAGACAG/CAG coding_sequence_variant, frameshift
rs1057516312 likely-pathogenic, Bifunctional peroxisomal enzyme deficiency 119,531,316(+) AAA/AA coding_sequence_variant, frameshift
rs1057516672 likely-pathogenic, Bifunctional peroxisomal enzyme deficiency 119,475,720(+) AA/AAA 5_prime_UTR_variant, coding_sequence_variant, frameshift

Structural Variations from Database of Genomic Variants (DGV) for HSD17B4 Gene

Variant ID Type Subtype PubMed ID
esv2486573 CNV deletion 19546169
nsv4974 CNV deletion 18451855
nsv964931 CNV duplication 23825009

Variation tolerance for HSD17B4 Gene

Residual Variation Intolerance Score: 41.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 23.00; 99.50% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for HSD17B4 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HSD17B4 Gene

Disorders for HSD17B4 Gene

MalaCards: The human disease database

(13) MalaCards diseases for HSD17B4 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
d-bifunctional protein deficiency
  • 17-beta-hydroxysteroid dehydrogenase iv deficiency
perrault syndrome 1
  • prlts1
perrault syndrome
  • gonadal dysgenesis, xx type
rhizomelic chondrodysplasia punctata, type 1
  • rcdp1
peroxisomal acyl-coa oxidase deficiency
  • straight-chain acyl-coa oxidase deficiency
- elite association - COSMIC cancer census association via MalaCards


  • D-bifunctional protein deficiency (DBPD) [MIM:261515]: Disorder of peroxisomal fatty acid beta-oxidation. {ECO:0000269 PubMed:10400999, ECO:0000269 PubMed:10671535, ECO:0000269 PubMed:11743515, ECO:0000269 PubMed:9482850}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Perrault syndrome 1 (PRLTS1) [MIM:233400]: 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. {ECO:0000269 PubMed:20673864}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for HSD17B4

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with HSD17B4: view

No data available for Genatlas for HSD17B4 Gene

Publications for HSD17B4 Gene

  1. Crystal structure of 2-enoyl-CoA hydratase 2 from human peroxisomal multifunctional enzyme type 2. (PMID: 15644212) Koski KM … Glumoff T (Journal of molecular biology 2005) 3 4 22 58
  2. Peroxisomal D-hydroxyacyl-CoA dehydrogenase deficiency: resolution of the enzyme defect and its molecular basis in bifunctional protein deficiency. (PMID: 9482850) van Grunsven EG … Wanders RJ (Proceedings of the National Academy of Sciences of the United States of America 1998) 3 4 22 58
  3. Purification and properties of human D-3-hydroxyacyl-CoA dehydratase: medium-chain enoyl-CoA hydratase is D-3-hydroxyacyl-CoA dehydratase. (PMID: 8902629) Jiang LL … Hashimoto T (Journal of biochemistry 1996) 3 4 22 58
  4. Genetic susceptibility to distinct bladder cancer subphenotypes. (PMID: 19692168) Guey LT … EPICURO/Spanish Bladder Cancer Study investigators (European urology 2010) 3 44 58
  5. Genetic variation in the estrogen metabolic pathway and mammographic density as an intermediate phenotype of breast cancer. (PMID: 20214802) Li J … Hall P (Breast cancer research : BCR 2010) 3 44 58

Products for HSD17B4 Gene

Sources for HSD17B4 Gene

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