NSDHL explained

Sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylating is an enzyme that in humans is encoded by the NSDHL gene.^{[1] [2]} This enzyme is localized in the endoplasmic reticulum and is involved in cholesterol biosynthesis.^[3]

Clinical significance

Mutations in the NSDHL gene are associated with CHILD syndrome which is a X-linked dominant disorder of lipid metabolism with disturbed cholesterol biosynthesis, and typically lethal in males.^{[3] [4]}

Further reading

• Dawson SJ, White LA . Treatment of Haemophilus aphrophilus endocarditis with ciprofloxacin . J. Infect. . 24 . 3 . 317–20 . 1992 . 1602151 . 10.1016/S0163-4453(05)80037-4 .
• Angel TA, Faust CJ, Gonzales JC, etal . Genetic mapping of the X-linked dominant mutations striated (Str) and bare patches (Bpa) to a 600-kb region of the mouse X chromosome: implications for mapping human disorders in Xq28 . Mamm. Genome . 4 . 3 . 171–6 . 1993 . 8439729 . 10.1007/BF00352233 . 1689347 .
• Levin ML, Chatterjee A, Pragliola A, etal . A comparative transcription map of the murine bare patches (Bpa) and striated (Str) critical regions and human Xq28 . Genome Res. . 6 . 6 . 465–77 . 1996 . 8828036 . 10.1101/gr.6.6.465 . free .
• Heiss NS, Rogner UC, Kioschis P, etal . Transcription mapping in a 700-kb region around the DXS52 locus in Xq28: isolation of six novel transcripts and a novel ATPase isoform (hPMCA5) . Genome Res. . 6 . 6 . 478–91 . 1996 . 8828037 . 10.1101/gr.6.6.478 . free .
• Mallon AM, Platzer M, Bate R, etal . Comparative Genome Sequence Analysis of the Bpa/Str Region in Mouse and Man . Genome Res. . 10 . 6 . 758–75 . 2000 . 10854409 . 10.1101/gr.10.6.758 . 310879 .
• Hartley JL, Temple GF, Brasch MA . DNA Cloning Using In Vitro Site-Specific Recombination . Genome Res. . 10 . 11 . 1788–95 . 2001 . 11076863 . 10.1101/gr.143000 . 310948 .
• Simpson JC, Wellenreuther R, Poustka A, etal . Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing . EMBO Rep. . 1 . 3 . 287–92 . 2001 . 11256614 . 10.1093/embo-reports/kvd058 . 1083732 .
• König A, Happle R, Fink-Puches R, etal . A novel missense mutation of NSDHL in an unusual case of CHILD syndrome showing bilateral, almost symmetric involvement . J. Am. Acad. Dermatol. . 46 . 4 . 594–6 . 2002 . 11907515 . 10.1067/mjd.2002.113680 .
• Strausberg RL, Feingold EA, Grouse LH, etal . Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences . Proc. Natl. Acad. Sci. U.S.A. . 99 . 26 . 16899–903 . 2003 . 12477932 . 10.1073/pnas.242603899 . 139241 . 2002PNAS...9916899M . free .
• Hummel M, Cunningham D, Mullett CJ, etal . Left-sided CHILD syndrome caused by a nonsense mutation in the NSDHL gene . Am. J. Med. Genet. A . 122 . 3 . 246–51 . 2004 . 12966526 . 10.1002/ajmg.a.20248 . 2737912 .
• Caldas H, Herman GE . NSDHL, an enzyme involved in cholesterol biosynthesis, traffics through the Golgi and accumulates on ER membranes and on the surface of lipid droplets . Hum. Mol. Genet. . 12 . 22 . 2981–91 . 2004 . 14506130 . 10.1093/hmg/ddg321 . free .
• Gerhard DS, Wagner L, Feingold EA, etal . The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC) . Genome Res. . 14 . 10B . 2121–7 . 2004 . 15489334 . 10.1101/gr.2596504 . 528928 .
• Wiemann S, Arlt D, Huber W, etal . From ORFeome to Biology: A Functional Genomics Pipeline . Genome Res. . 14 . 10B . 2136–44 . 2004 . 15489336 . 10.1101/gr.2576704 . 528930 .
• Cunningham D, Swartzlander D, Liyanarachchi S, etal . Changes in gene expression associated with loss of function of the NSDHL sterol dehydrogenase in mouse embryonic fibroblasts . J. Lipid Res. . 46 . 6 . 1150–62 . 2005 . 15805545 . 10.1194/jlr.M400462-JLR200 . free .
• Mehra S, Li L, Fan CY, etal . A novel somatic mutation of the 3beta-hydroxysteroid dehydrogenase gene in sporadic cutaneous verruciform xanthoma . Archives of Dermatology . 141 . 10 . 1263–7 . 2005 . 16230564 . 10.1001/archderm.141.10.1263 . 27980953 .
• Mehrle A, Rosenfelder H, Schupp I, etal . The LIFEdb database in 2006 . Nucleic Acids Res. . 34 . Database issue . D415–8 . 2006 . 16381901 . 10.1093/nar/gkj139 . 1347501 .
• Guggenberger C, Ilgen D, Adamski J . Functional analysis of cholesterol biosynthesis by RNA interference . J. Steroid Biochem. Mol. Biol. . 104 . 3–5 . 105–9 . 2007 . 17498944 . 10.1016/j.jsbmb.2007.03.001 . 20838858 .

External links

• GeneReviews/NCBI/NIH/UW entry on NSDHL related disorders including CHILD syndrome CK syndrome

Notes and References

1. Ohashi M, Mizushima N, Kabeya Y, Yoshimori T . Localization of mammalian NAD(P)H steroid dehydrogenase-like protein on lipid droplets . J Biol Chem . 278 . 38 . 36819–29 . Sep 2003 . 12837764 . 10.1074/jbc.M301408200 . free .
2. Persson B, Kallberg Y, Bray JE, Bruford E, Dellaporta SL, Favia AD, Duarte RG, Jornvall H, Kavanagh KL, Kedishvili N, Kisiela M, Maser E, Mindnich R, Orchard S, Penning TM, Thornton JM, Adamski J, Oppermann U . The SDR (Short-Chain Dehydrogenase/Reductase and Related Enzymes) Nomenclature Initiative . Chem Biol Interact . 178 . 1–3 . 94–8 . Feb 2009 . 19027726 . 2896744. 10.1016/j.cbi.2008.10.040 . 2009CBI...178...94P .
3. Web site: Entrez Gene: NSDHL NAD(P) dependent steroid dehydrogenase-like.
4. Konig A, Happle R, Bornholdt D, Engel H, Grzeschik KH . Mutations in the NSDHL gene, encoding a 3beta-hydroxysteroid dehydrogenase, cause CHILD syndrome . Am J Med Genet . 90 . 4 . 339–46 . Apr 2000 . 10710235 . 10.1002/(SICI)1096-8628(20000214)90:4<339::AID-AJMG15>3.0.CO;2-5 .