Gene Symbol: Hsd17b4
Description: hydroxysteroid (17-beta) dehydrogenase 4
Alias: 17-beta-HSD, 17[b]-HSD, DBP, MFE-2, MFP2, MPF-2, Mfp-2, perMFE-2, peroxisomal multifunctional enzyme type 2, 17-beta-HSD 4, 17-beta-hydroxysteroid dehydrogenase 4, D-bifunctional protein, multifunctional protein 2
Species: mouse
Products:     Hsd17b4

Top Publications

  1. Huyghe S, Schmalbruch H, De Gendt K, Verhoeven G, Guillou F, Van Veldhoven P, et al. Peroxisomal multifunctional protein 2 is essential for lipid homeostasis in Sertoli cells and male fertility in mice. Endocrinology. 2006;147:2228-36 pubmed
    ..In conclusion, the present data demonstrate that peroxisomal beta-oxidation is essential for lipid homeostasis in the testis and for male fertility. ..
  2. Seedorf U, Engel T, Assmann G, Leenders F, Adamski J. Intrinsic sterol- and phosphatidylcholine transfer activities of 17 beta-hydroxysteroid dehydrogenase type IV. J Steroid Biochem Mol Biol. 1995;55:549-53 pubmed
    ..We conclude that the 80 kDa type IV 17 beta-HSD represents a potentially multifunctional protein with intrinsic in vitro sterol and phospholipid transfer activity in addition to its enzymatic activity. ..
  3. Huyghe S, Schmalbruch H, Hulshagen L, Veldhoven P, Baes M, Hartmann D. Peroxisomal multifunctional protein-2 deficiency causes motor deficits and glial lesions in the adult central nervous system. Am J Pathol. 2006;168:1321-34 pubmed
    ..These data indicate that MFP-2 deficiency in mice causes a neurological phenotype in adulthood that is manifested primarily by astroglial damage. ..
  4. Ferdinandusse S, Denis S, Overmars H, Van Eeckhoudt L, Van Veldhoven P, Duran M, et al. Developmental changes of bile acid composition and conjugation in L- and D-bifunctional protein single and double knockout mice. J Biol Chem. 2005;280:18658-66 pubmed
    ..D-Bifunctional protein (DBP) is responsible for the second and third step of this beta-oxidation process...
  5. Qin Y, Poutanen M, Novikov D. Substrate specificities of peroxisomal members of short-chain alcohol dehydrogenase superfamily: expression and characterization of dehydrogenase part of Candida tropicalis multifunctional enzyme. J Lipid Res. 2000;41:93-8 pubmed
    ..Mammalian peroxisomal multifunctional enzyme type 2 (perMFE-2) is a 2-enoyl-CoA hydratase-2/(R)-3-hydroxyacyl-CoA dehydrogenase...
  6. Qin Y, Haapalainen A, Kilpeläinen S, Marttila M, Koski M, Glumoff T, et al. Human peroxisomal multifunctional enzyme type 2. Site-directed mutagenesis studies show the importance of two protic residues for 2-enoyl-CoA hydratase 2 activity. J Biol Chem. 2000;275:4965-72 pubmed
    ..The data show that the hydratase 2 reaction catalyzed by MFE-2 requires two protic residues, Glu-366 and Asp-510, suggesting that their catalytic role may be equivalent to that of the two catalytic residues of hydratase 1. ..
  7. Baes M, Huyghe S, Carmeliet P, Declercq P, Collen D, Mannaerts G, et al. 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. J Biol Chem. 2000;275:16329-36 pubmed
  8. Krysko O, Bottelbergs A, Van Veldhoven P, Baes M. Combined deficiency of peroxisomal beta-oxidation and ether lipid synthesis in mice causes only minor cortical neuronal migration defects but severe hypotonia. Mol Genet Metab. 2010;100:71-6 pubmed publisher
    ..Double MFP2/DAPAT knockout mice were generated and their postnatal phenotypes were compared with single knockouts and control ..
  9. Baes M, Gressens P, Huyghe S, De N, Qi C, Jia Y, et al. The neuronal migration defect in mice with Zellweger syndrome (Pex5 knockout) is not caused by the inactivity of peroxisomal beta-oxidation. J Neuropathol Exp Neurol. 2002;61:368-74 pubmed
    ..In contrast to patients with multifunctional protein 2 deficiency who present with neocortical dysgenesis, impairment of neuronal migration was not observed in ..

More Information


  1. Jia Y, Qi C, Zhang Z, Hashimoto T, Rao M, Huyghe S, et al. Overexpression of peroxisome proliferator-activated receptor-alpha (PPARalpha)-regulated genes in liver in the absence of peroxisome proliferation in mice deficient in both L- and D-forms of enoyl-CoA hydratase/dehydrogenase enzymes of peroxisomal be. J Biol Chem. 2003;278:47232-9 pubmed
  2. Verheijden S, Bottelbergs A, Krysko O, Krysko D, Beckers L, De Munter S, et al. Peroxisomal multifunctional protein-2 deficiency causes neuroinflammation and degeneration of Purkinje cells independent of very long chain fatty acid accumulation. Neurobiol Dis. 2013;58:258-69 pubmed publisher
    ..the cellular mechanisms of neurodegeneration in these patients, we developed a mouse model lacking multifunctional protein 2 (MFP2, also called D-bifunctional protein), a central enzyme of peroxisomal ?-oxidation, in all neural ..
  3. Martens K, Ver Loren van Themaat E, van Batenburg M, Heinaniemi M, Huyghe S, Van Hummelen P, et al. Coordinate induction of PPAR alpha and SREBP2 in multifunctional protein 2 deficient mice. Biochim Biophys Acta. 2008;1781:694-702 pubmed publisher
    Mice with inactivation of the D-specific multifunctional protein 2 (MFP2), a crucial enzyme of peroxisomal beta-oxidation, develop multiple pathologies in diverse tissues already starting in the postnatal period...
  4. Suraweera N, Haines J, McCart A, Rogers P, Latchford A, Coster M, et al. Genetic determinants modulate susceptibility to pregnancy-associated tumourigenesis in a recombinant line of Min mice. Hum Mol Genet. 2006;15:3429-35 pubmed
    ..015). Our results provide the first experimental evidence for genetic determinants controlling pregnancy-associated tumourigenesis; analogous genetic factors may exist in humans. ..
  5. Huyghe S, Mannaerts G, Baes M, Van Veldhoven P. Peroxisomal multifunctional protein-2: the enzyme, the patients and the knockout mouse model. Biochim Biophys Acta. 2006;1761:973-94 pubmed
    ..In the present review, the identification and biochemical characteristics of MFP-2, and the consequences of MFP-2 dysfunction in humans and in mice will be discussed. ..
  6. De Munter S, Verheijden S, Vanderstuyft E, Malheiro A, Brites P, Gall D, et al. Early-onset Purkinje cell dysfunction underlies cerebellar ataxia in peroxisomal multifunctional protein-2 deficiency. Neurobiol Dis. 2016;94:157-68 pubmed publisher
    ..At the age of 4weeks, Nestin-Mfp2(-/-) mice showed impaired motor learning on the accelerating rotarod and underperformed on the balance beam test...
  7. Mustonen M, Poutanen M, Isomaa V, Vihko P, Vihko R. Cloning of mouse 17beta-hydroxysteroid dehydrogenase type 2, and analysing expression of the mRNAs for types 1, 2, 3, 4 and 5 in mouse embryos and adult tissues. Biochem J. 1997;325 ( Pt 1):199-205 pubmed
    ..The data therefore suggest that there is transient oestradiol production in the early days of embryonic development, after which inactivation of sex steroids predominates in the fetus and placenta. ..
  8. Maxwell M, Bjorkman J, Nguyen T, Sharp P, Finnie J, Paterson C, et al. Pex13 inactivation in the mouse disrupts peroxisome biogenesis and leads to a Zellweger syndrome phenotype. Mol Cell Biol. 2003;23:5947-57 pubmed
    ..The brains of these animals showed disordered lamination in the cerebral cortex, consistent with a neuronal migration defect. Thus, Pex13(-/-) mice reproduce many of the features of Zellweger syndrome and PEX13 deficiency in humans. ..
  9. Hisano T, Tsuge T, Fukui T, Iwata T, Miki K, Doi Y. Crystal structure of the (R)-specific enoyl-CoA hydratase from Aeromonas caviae involved in polyhydroxyalkanoate biosynthesis. J Biol Chem. 2003;278:617-24 pubmed
    ..In addition, this study provides the first structural information of the (R)-hydratase family and may facilitate further functional studies for members of the family. ..
  10. Huyghe S, Casteels M, Janssen A, Meulders L, Mannaerts G, Declercq P, et al. Prenatal and postnatal development of peroxisomal lipid-metabolizing pathways in the mouse. Biochem J. 2001;353:673-80 pubmed
  11. Verheijden S, Beckers L, Casazza A, Butovsky O, Mazzone M, Baes M. Identification of a chronic non-neurodegenerative microglia activation state in a mouse model of peroxisomal β-oxidation deficiency. Glia. 2015;63:1606-20 pubmed publisher
    ..We previously showed that mice lacking multifunctional protein 2 (MFP2), a pivotal enzyme in peroxisomal β-oxidation, persistently accumulate reactive myeloid cells ..
  12. Kleinecke S, Richert S, de Hoz L, Brügger B, Kungl T, Asadollahi E, et al. Peroxisomal dysfunctions cause lysosomal storage and axonal Kv1 channel redistribution in peripheral neuropathy. elife. 2017;6: pubmed publisher
    ..This reveals a new aspect of axon-glia interactions, with Schwann cell lipid metabolism regulating the anchorage of juxtaparanodal Kv1-channels. ..
  13. Dirkx R, Meyhi E, Asselberghs S, Reddy J, Baes M, Van Veldhoven P. Beta-oxidation in hepatocyte cultures from mice with peroxisomal gene knockouts. Biochem Biophys Res Commun. 2007;357:718-23 pubmed
    ..More surprisingly, dicarboxylic fatty acid oxidation was impaired in MFP-1 but not in MFP-2 knockout hepatocytes, indicating that MFP-1 might play more than an obsolete role in peroxisomal beta-oxidation. ..
  14. Normand T, Husen B, Leenders F, Pelczar H, Baert J, Begue A, et al. Molecular characterization of mouse 17 beta-hydroxysteroid dehydrogenase IV. J Steroid Biochem Mol Biol. 1995;55:541-8 pubmed
    ..The multitude of enzymes acting at C17 might be necessary for a precise control of hormone levels. ..
  15. Carstensen J, Tesdorpf J, Kaufmann M, Markus M, Husen B, Leenders F, et al. Characterization of 17 beta-hydroxysteroid dehydrogenase IV. J Endocrinol. 1996;150 Suppl:S3-12 pubmed