hydroxysteroid 17-beta dehydrogenase 4
Last updated 3 Apr 2025
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The HSD17B4 gene provides instructions for making the D-bifunctional protein. This protein is an enzyme, which means that it helps specific biochemical reactions take place. D-bifunctional protein is so named because it aids in two biochemical reactions.
Normal function
The HSD17B4 gene provides instructions for making the D-bifunctional protein. This protein is an enzyme, which means that it helps specific biochemical reactions take place. D-bifunctional protein is so named because it aids in two biochemical reactions.
The D-bifunctional protein is found in sac-like cell structures (organelles) called peroxisomes, which contain a variety of enzymes that break down many different substances. The D-bifunctional protein is involved in the breakdown of certain molecules called fatty acids. The protein has two separate regions (domains) with enzyme activity, called the hydratase and dehydrogenase domains. These domains help carry out the second and third steps, respectively, of a process called the peroxisomal fatty acid beta-oxidation pathway. This process shortens the fatty acid molecules by two carbon atoms at a time until the fatty acids are converted to a molecule called acetyl-CoA, which is transported out of the peroxisomes for reuse by the cell.
Conditions referring to this gene or chromosome
Other names
17-beta-HSD 4
17-beta-HSD IV
17-beta-hydroxysteroid dehydrogenase 4
17beta-estradiol dehydrogenase type IV
3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholest-24-enoyl-CoA hydratase
beta-hydroxyacyl dehydrogenase
beta-keto-reductase
D-3-hydroxyacyl-CoA dehydratase
D-bifunctional protein, peroxisomal
DBP
hydroxysteroid (17-beta) dehydrogenase 4
MFE-2
MPF-2
multifunctional protein 2
peroxisomal multifunctional enzyme type 2
peroxisomal multifunctional protein 2
PRLTS1
SDR8C1
short chain dehydrogenase/reductase family 8C, member 1
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Further reading and references
- hydroxysteroid 17-beta dehydrogenase 4; MedlinePlus, National Library of Medicine.
- Ferdinandusse S, Denis S, Mooyer PA, Dekker C, Duran M, Soorani-Lunsing RJ, Boltshauser E, Macaya A, Gartner J, Majoie CB, Barth PG, Wanders RJ, Poll-The BT. Clinical and biochemical spectrum of D-bifunctional protein deficiency. Ann Neurol. 2006 Jan;59(1):92-104. doi: 10.1002/ana.20702.
- Ferdinandusse S, Ylianttila MS, Gloerich J, Koski MK, Oostheim W, Waterham HR, Hiltunen JK, Wanders RJ, Glumoff T. Mutational spectrum of D-bifunctional protein deficiency and structure-based genotype-phenotype analysis. Am J Hum Genet. 2006 Jan;78(1):112-24. doi: 10.1086/498880. Epub 2005 Nov 15.
- McMillan HJ, Worthylake T, Schwartzentruber J, Gottlieb CC, Lawrence SE, Mackenzie A, Beaulieu CL, Mooyer PA; FORGE Canada Consortium; Wanders RJ, Majewski J, Bulman DE, Geraghty MT, Ferdinandusse S, Boycott KM. Specific combination of compound heterozygous mutations in 17beta-hydroxysteroid dehydrogenase type 4 (HSD17B4) defines a new subtype of D-bifunctional protein deficiency. Orphanet J Rare Dis. 2012 Nov 22;7:90. doi: 10.1186/1750-1172-7-90.
- Moller G, van Grunsven EG, Wanders RJ, Adamski J. Molecular basis of D-bifunctional protein deficiency. Mol Cell Endocrinol. 2001 Jan 22;171(1-2):61-70. doi: 10.1016/s0303-7207(00)00388-9.
- Pierce SB, Walsh T, Chisholm KM, Lee MK, Thornton AM, Fiumara A, Opitz JM, Levy-Lahad E, Klevit RE, King MC. Mutations in the DBP-deficiency protein HSD17B4 cause ovarian dysgenesis, hearing loss, and ataxia of Perrault Syndrome. Am J Hum Genet. 2010 Aug 13;87(2):282-8. doi: 10.1016/j.ajhg.2010.07.007. Epub 2010 Jul 30.
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