HSD17B10
MIM.300256 Xp11.2
HSD17B10 gene code for HADH2 (3-hydroxyacyl-CoA dehydrogenase type II) or endoplasmic reticulum-associated amyloid-beta binding protein (ERAB).
The HSD17B10 gene encodes 17-beta-hydroxysteroid dehydrogenase X (17-beta-HSD10) (EC 1.1.1.178), also known as SCHAD, a member of the short-chain dehydrogenase/reductase superfamily.
It is a mitochondrial enzyme that acts on a wide spectrum of substrates, including steroids, alcohols, and fatty acids, with a preference for short-chain methyl-branched acyl-CoAs.
Pathology
germline mutations in the HADH2 gene in
- 2-methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency (inborn error of isoleucine degradation)
- X-linked mental retardation with choreoathetosis, and abnormal behavior (MRXS10). (#17236142#)
submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 are associated with mental retardation. (#18252223#)
References
Froyen G, Corbett M, Vandewalle J, Jarvela I, Lawrence O, Meldrum C, Bauters M, Govaerts K, Vandeleur L, Van Esch H, Chelly J, Sanlaville D, van Bokhoven H, Ropers HH, Laumonnier F, Ranieri E, Schwartz CE, Abidi F, Tarpey PS, Futreal PA, Whibley A, Raymond FL, Stratton MR, Fryns JP, Scott R, Peippo M, Sipponen M, Partington M, Mowat D, Field M, Hackett A, Marynen P, Turner G, Gécz J. Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation. Am J Hum Genet. 2008 Feb;82(2):432-43. PMID: #18252223#
Lenski C, Kooy RF, Reyniers E, Loessner D, Wanders RJ, Winnepenninckx B, Hellebrand H, Engert S, Schwartz CE, Meindl A, Ramser J. The reduced expression of the HADH2 protein causes X-linked mental retardation, choreoathetosis, and abnormal behavior. Am J Hum Genet. 2007 Feb;80(2):372-7. PMID: #17236142#
Garcia-Villoria, J.; Ofman, R.; Sala, P. R.; Merinero, B.; Ramos, J.; Garcia-Silva, M. T.; Beseler, B.; Dalmau, J.; Wanders, R. J. A.; Ugarte, M. : 2-methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency: an X-linked inborn error of isoleucine metabolism that may mimic a mitochondrial disease. Pediat. Res. 58: 488-491, 2005. PubMed ID : #16148061#
Ofman, R.; Ruiter, J. P. N.; Feenstra, M.; Duran, M.; Poll-The, B. T.; Zschocke, J.; Ensenauer, R.; Lehnert, W.; Sass, J. O.; Sperl, W.; Wanders, R. J. A. : 2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency is caused by mutations in the HADH2 gene. Am. J. Hum. Genet. 72: 1300-1307, 2003. PubMed ID : #12696021#
Reyniers, E.; Van Bogaert, P.; Peeters, N.; Vits, L.; Pauly, F.; Fransen, E.; Van Regemorter, N.; Kooy, R. F. : A new neurological syndrome with mental retardation, choreoathetosis, and abnormal behavior maps to chromosome Xp11. Am. J. Hum. Genet. 65: 1406-1412, 1999. PubMed ID : #10521307#