HSD17B10 Gene

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1		Dean Liu	+ 960 word(s)	960	2020-12-15 07:56:48

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Liu, D. HSD17B10 Gene. Encyclopedia. Available online: https://encyclopedia.pub/entry/4109 (accessed on 29 September 2026).

Liu D. HSD17B10 Gene. Encyclopedia. Available at: https://encyclopedia.pub/entry/4109. Accessed September 29, 2026.

Liu, Dean. "HSD17B10 Gene" Encyclopedia, https://encyclopedia.pub/entry/4109 (accessed September 29, 2026).

Liu, D. (2020, December 23). HSD17B10 Gene. In Encyclopedia. https://encyclopedia.pub/entry/4109

Liu, Dean. "HSD17B10 Gene." Encyclopedia. Web. 23 December, 2020.

HSD17B10 Gene

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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/gene/hsd17b10

Hydroxysteroid 17-beta dehydrogenase 10

genes

References

Chatfield KC, Coughlin CR 2nd, Friederich MW, Gallagher RC, Hesselberth JR,Lovell MA, Ofman R, Swanson MA, Thomas JA, Wanders RJ, Wartchow EP, Van Hove JL. Mitochondrial energy failure in HSD10 disease is due to defective mtDNAtranscript processing. Mitochondrion. 2015 Mar;21:1-10. doi:10.1016/j.mito.2014.12.005.
Deutschmann AJ, Amberger A, Zavadil C, Steinbeisser H, Mayr JA, FeichtingerRG, Oerum S, Yue WW, Zschocke J. Mutation or knock-down of 17β-hydroxysteroiddehydrogenase type 10 cause loss of MRPP1 and impaired processing ofmitochondrial heavy strand transcripts. Hum Mol Genet. 2014 Jul 1;23(13):3618-28.doi: 10.1093/hmg/ddu072.
Holzmann J, Frank P, Löffler E, Bennett KL, Gerner C, Rossmanith W. RNase Pwithout RNA: identification and functional reconstitution of the humanmitochondrial tRNA processing enzyme. Cell. 2008 Oct 31;135(3):462-74. doi:10.1016/j.cell.2008.09.013.
Ofman R, Ruiter JP, Feenstra M, Duran M, Poll-The BT, Zschocke J, Ensenauer R,Lehnert W, Sass JO, Sperl W, Wanders RJ. 2-Methyl-3-hydroxybutyryl-CoAdehydrogenase deficiency is caused by mutations in the HADH2 gene. Am J HumGenet. 2003 May;72(5):1300-7.
Reyniers E, Van Bogaert P, Peeters N, Vits L, Pauly F, Fransen E, VanRegemorter N, Kooy RF. A new neurological syndrome with mental retardation,choreoathetosis, and abnormal behavior maps to chromosome Xp11. Am J Hum Genet.1999 Nov;65(5):1406-12.
Vilardo E, Nachbagauer C, Buzet A, Taschner A, Holzmann J, Rossmanith W. Asubcomplex of human mitochondrial RNase P is a bifunctionalmethyltransferase--extensive moonlighting in mitochondrial tRNA biogenesis.Nucleic Acids Res. 2012 Dec;40(22):11583-93. doi: 10.1093/nar/gks910.
Yang SY, He XY, Schulz H. Multiple functions of type 10 17beta-hydroxysteroid dehydrogenase. Trends Endocrinol Metab. 2005 May-Jun;16(4):167-75. Review.

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Subjects: Genetics & Heredity

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Update Date: 23 Dec 2020

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