Biology:NSDHL
From HandWiki
Short description: Protein-coding gene in the species Homo sapiens
 Generic protein structure example |
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]
References
- ↑ "Localization of mammalian NAD(P)H steroid dehydrogenase-like protein on lipid droplets". J Biol Chem 278 (38): 36819–29. Sep 2003. doi:10.1074/jbc.M301408200. PMID 12837764.
- ↑ "The SDR (Short-Chain Dehydrogenase/Reductase and Related Enzymes) Nomenclature Initiative". Chem Biol Interact 178 (1–3): 94–8. Feb 2009. doi:10.1016/j.cbi.2008.10.040. PMID 19027726.
- ↑ 3.0 3.1 "Entrez Gene: NSDHL NAD(P) dependent steroid dehydrogenase-like". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=50814.
- ↑ "Mutations in the NSDHL gene, encoding a 3beta-hydroxysteroid dehydrogenase, cause CHILD syndrome". Am J Med Genet 90 (4): 339–46. Apr 2000. doi:10.1002/(SICI)1096-8628(20000214)90:4<339::AID-AJMG15>3.0.CO;2-5. PMID 10710235.
Further reading
- "Treatment of Haemophilus aphrophilus endocarditis with ciprofloxacin". J. Infect. 24 (3): 317–20. 1992. doi:10.1016/S0163-4453(05)80037-4. PMID 1602151.
- "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. doi:10.1007/BF00352233. PMID 8439729.
- "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. doi:10.1101/gr.6.6.465. PMID 8828036.
- "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. doi:10.1101/gr.6.6.478. PMID 8828037.
- "Comparative Genome Sequence Analysis of the Bpa/Str Region in Mouse and Man". Genome Res. 10 (6): 758–75. 2000. doi:10.1101/gr.10.6.758. PMID 10854409.
- "DNA Cloning Using In Vitro Site-Specific Recombination". Genome Res. 10 (11): 1788–95. 2001. doi:10.1101/gr.143000. PMID 11076863.
- "Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing". EMBO Rep. 1 (3): 287–92. 2001. doi:10.1093/embo-reports/kvd058. PMID 11256614.
- "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. doi:10.1067/mjd.2002.113680. PMID 11907515.
- "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. doi:10.1073/pnas.242603899. PMID 12477932. Bibcode: 2002PNAS...9916899M.
- "Left-sided CHILD syndrome caused by a nonsense mutation in the NSDHL gene". Am. J. Med. Genet. A 122 (3): 246–51. 2004. doi:10.1002/ajmg.a.20248. PMID 12966526.
- "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. doi:10.1093/hmg/ddg321. PMID 14506130.
- "The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. 2004. doi:10.1101/gr.2596504. PMID 15489334.
- "From ORFeome to Biology: A Functional Genomics Pipeline". Genome Res. 14 (10B): 2136–44. 2004. doi:10.1101/gr.2576704. PMID 15489336.
- "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. doi:10.1194/jlr.M400462-JLR200. PMID 15805545.
- "A novel somatic mutation of the 3beta-hydroxysteroid dehydrogenase gene in sporadic cutaneous verruciform xanthoma". Archives of Dermatology 141 (10): 1263–7. 2005. doi:10.1001/archderm.141.10.1263. PMID 16230564.
- "The LIFEdb database in 2006". Nucleic Acids Res. 34 (Database issue): D415–8. 2006. doi:10.1093/nar/gkj139. PMID 16381901.
- "Functional analysis of cholesterol biosynthesis by RNA interference". J. Steroid Biochem. Mol. Biol. 104 (3–5): 105–9. 2007. doi:10.1016/j.jsbmb.2007.03.001. PMID 17498944.
External links
- GeneReviews/NCBI/NIH/UW entry on NSDHL related disorders including CHILD syndrome CK syndrome
- Nsdhl+protein,+human at the US National Library of Medicine Medical Subject Headings (MeSH)
 |
