NP_000405.1
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
77,870 Da
NCBI Official Full Name
peroxisomal multifunctional enzyme type 2 isoform 2
NCBI Official Synonym Full Names
hydroxysteroid (17-beta) dehydrogenase 4
NCBI Official Synonym Symbols
DBP; MFE-2; MPF-2; PRLTS1; SDR8C1 [Similar Products]
NCBI Protein Information
peroxisomal multifunctional enzyme type 2
UniProt Protein Name
Peroxisomal multifunctional enzyme type 2
UniProt Synonym Protein Names
17-beta-hydroxysteroid dehydrogenase 4; 17-beta-HSD 4
UniProt Synonym Gene Names
UniProt Entry Name
DHB4_HUMAN
NCBI Summary for 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. [provided by RefSeq, May 2014]
UniProt Comments for HSD17B4
HSD17B4: 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. Defects in HSD17B4 are a cause of D-bifunctional protein deficiency (DBPD). DBPD is a disorder of peroxisomal fatty acid beta-oxidation. Defects in HSD17B4 are the cause of Perrault syndrome (PRS). PRS is 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. Belongs to the short-chain dehydrogenases/reductases (SDR) family.
Protein type: Lipid Metabolism - primary bile acid biosynthesis; EC 4.2.1.107; Mitochondrial; EC 4.2.1.119; EC 1.1.1.n12; Cell development/differentiation; Lyase; Oxidoreductase
Chromosomal Location of Human Ortholog: 5q21
Cellular Component: intracellular membrane-bound organelle; membrane; mitochondrion; peroxisomal matrix; peroxisomal membrane; peroxisome
Molecular Function: 3-hydroxyacyl-CoA dehydrogenase activity; 3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity; isomerase activity; long-chain-enoyl-CoA hydratase activity; protein homodimerization activity; receptor binding
Biological Process: androgen metabolic process; bile acid biosynthetic process; bile acid metabolic process; cellular lipid metabolic process; estrogen metabolic process; fatty acid beta-oxidation; fatty acid beta-oxidation using acyl-CoA oxidase; osteoblast differentiation; Sertoli cell development; unsaturated fatty acid metabolic process; very-long-chain fatty acid metabolic process
Disease: D-bifunctional Protein Deficiency; Perrault Syndrome 1
Research Articles on HSD17B4
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Products associated with anti-HSD17B4 antibody
Pathways associated with anti-HSD17B4 antibody
Diseases associated with anti-HSD17B4 antibody
Organs/Tissues associated with anti-HSD17B4 antibody
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