Gene: HSD17B4

Alternate names for this Gene: DBP|MFE-2|MFP-2|MPF-2|PRLTS1|SDR8C1

Gene 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.

Gene is located in Chromosome: 5

Location in Chromosome : 5q23.1

Description of this Gene: hydroxysteroid 17-beta dehydrogenase 4

Type of Gene: protein-coding

rs1057516672 in HSD17B4 gene and Bifunctional peroxisomal enzyme deficiency PMID 23100014 2013 A clinical evaluation tool for SNP arrays, especially for autosomal recessive conditions in offspring of consanguineous parents.

PMID 10748062 2000 Inactivation of the peroxisomal multifunctional protein-2 in mice impedes the degradation of not only 2-methyl-branched fatty acids and bile acid intermediates but also of very long chain fatty acids.

PMID 9482850 1998 Peroxisomal D-hydroxyacyl-CoA dehydrogenase deficiency: resolution of the enzyme defect and its molecular basis in bifunctional protein deficiency.

PMID 12517343 2003 Binary structure of the two-domain (3R)-hydroxyacyl-CoA dehydrogenase from rat peroxisomal multifunctional enzyme type 2 at 2.38 A resolution.

PMID 16385454 2006 Mutational spectrum of D-bifunctional protein deficiency and structure-based genotype-phenotype analysis.

PMID 25967389 2015 Peroxisomal D-bifunctional protein deficiency: First case reports from Slovakia.

PMID 26970254 2017 Expanding the genotypic spectrum of Perrault syndrome.

PMID 27290639 2016 New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre.

PMID 9915948 1999 Peroxisomal bifunctional protein deficiency revisited: resolution of its true enzymatic and molecular basis.

PMID 10400999 1999 Enoyl-CoA hydratase deficiency: identification of a new type of D-bifunctional protein deficiency.

PMID 10497229 1999 Yeast peroxisomal multifunctional enzyme: (3R)-hydroxyacyl-CoA dehydrogenase domains A and B are required for optimal growth on oleic acid.

PMID 11743515 2001 D-bifunctional protein deficiency with fetal ascites, polyhydramnios, and contractures of hands and toes.

PMID 10419023 1999 Characterization of the HSD17B4 gene: D-specific multifunctional protein 2/17beta-hydroxysteroid dehydrogenase IV.

PMID 10671535 2000 Human peroxisomal multifunctional enzyme type 2. Site-directed mutagenesis studies show the importance of two protic residues for 2-enoyl-CoA hydratase 2 activity.

PMID 23181892 2012 Specific combination of compound heterozygous mutations in 17β-hydroxysteroid dehydrogenase type 4 (HSD17B4) defines a new subtype of D-bifunctional protein deficiency.

PMID 25882080 2015 After biochemical analysis, D-bifunctional protein deficiency was confirmed with the identification of a homozygous p.Asn457Tyr (N457Y) mutation of the HSD17B4 gene.

PMID 15644212 2005 Crystal structure of 2-enoyl-CoA hydratase 2 from human peroxisomal multifunctional enzyme type 2.

PMID 12562856 2003 A novel HPLC-based method to diagnose peroxisomal D-bifunctional protein enoyl-CoA hydratase deficiency.

PMID 22864515 2012 Hydratase activities of green fluorescent protein tagged human multifunctional enzyme type 2 hydratase domain and its variants.

PMID 11330053 2000 Molecular changes in the D-bifunctional protein cDNA sequence in Australasian patients belonging to the bifunctional protein complementation group.

PMID 24108619 2014 Exome sequencing as a diagnostic tool for pediatric-onset ataxia.

PMID 27243974 2016 Targeted Next Generation Sequencing in Patients with Inborn Errors of Metabolism.

PMID 28017249 2017 Slowly progressive d-bifunctional protein deficiency with survival to adulthood diagnosed by whole-exome sequencing.

PMID 23308274 2013 On the molecular basis of D-bifunctional protein deficiency type III.

rs1085307072 in HSD17B4 gene and PERRAULT SYNDROME 1 PMID 10748062 2000 Inactivation of the peroxisomal multifunctional protein-2 in mice impedes the degradation of not only 2-methyl-branched fatty acids and bile acid intermediates but also of very long chain fatty acids.

PMID 16385454 2006 Mutational spectrum of D-bifunctional protein deficiency and structure-based genotype-phenotype analysis.

PMID 25967389 2015 Peroxisomal D-bifunctional protein deficiency: First case reports from Slovakia.

PMID 27290639 2016 New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre.

PMID 26970254 2017 Expanding the genotypic spectrum of Perrault syndrome.

PMID 9482850 1998 Peroxisomal D-hydroxyacyl-CoA dehydrogenase deficiency: resolution of the enzyme defect and its molecular basis in bifunctional protein deficiency.

PMID 10400999 1999 Enoyl-CoA hydratase deficiency: identification of a new type of D-bifunctional protein deficiency.

PMID 25882080 2015 D-bifunctional protein deficiency: a cause of neonatal onset seizures and hypotonia.

PMID 22864515 2012 Hydratase activities of green fluorescent protein tagged human multifunctional enzyme type 2 hydratase domain and its variants.

PMID 23181892 2012 Specific combination of compound heterozygous mutations in 17β-hydroxysteroid dehydrogenase type 4 (HSD17B4) defines a new subtype of D-bifunctional protein deficiency.

PMID 20673864 2010 Mutations in the DBP-deficiency protein HSD17B4 cause ovarian dysgenesis, hearing loss, and ataxia of Perrault Syndrome.

rs7726558 in HSD17B4 gene and QT interval feature (observable entity) PMID 27958378 2018 Large-scale pharmacogenomic study of sulfonylureas and the QT, JT and QRS intervals: CHARGE Pharmacogenomics Working Group.

rs140543491 in HSD17B4 gene and Systolic Pressure PMID 29455858 2018 A Large-Scale Multi-ancestry Genome-wide Study Accounting for Smoking Behavior Identifies Multiple Significant Loci for Blood Pressure.