NSDHL

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NAD(P) dependent steroid dehydrogenase-like
Identifiers
Symbols NSDHL ; H105E3; SDR31E1; XAP104
External IDs OMIM300275 MGI1099438 HomoloGene5951 GeneCards: NSDHL Gene
EC number 1.1.1.170
RNA expression pattern
PBB GE NSDHL 215093 at tn.png
PBB GE NSDHL 209279 s at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 50814 18194
Ensembl ENSG00000147383 ENSMUSG00000031349
UniProt Q15738 Q9R1J0
RefSeq (mRNA) NM_001129765 NM_010941
RefSeq (protein) NP_001123237 NP_035071
Location (UCSC) Chr HG1497_PATCH:
152 – 152.04 Mb
Chr X:
72.92 – 72.96 Mb
PubMed search [1] [2]

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[edit]

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[edit]

  1. ^ Ohashi M, Mizushima N, Kabeya Y, Yoshimori T (Sep 2003). "Localization of mammalian NAD(P)H steroid dehydrogenase-like protein on lipid droplets". J Biol Chem 278 (38): 36819–29. doi:10.1074/jbc.M301408200. PMID 12837764. 
  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 (Feb 2009). "The SDR (Short-Chain Dehydrogenase/Reductase and Related Enzymes) Nomenclature Initiative". Chem Biol Interact 178 (1–3): 94–8. doi:10.1016/j.cbi.2008.10.040. PMC 2896744. PMID 19027726. 
  3. ^ a b "Entrez Gene: NSDHL NAD(P) dependent steroid dehydrogenase-like". 
  4. ^ Konig A, Happle R, Bornholdt D, Engel H, Grzeschik KH (Apr 2000). "Mutations in the NSDHL gene, encoding a 3beta-hydroxysteroid dehydrogenase, cause CHILD syndrome". Am J Med Genet 90 (4): 339–46. doi:10.1002/(SICI)1096-8628(20000214)90:4<339::AID-AJMG15>3.0.CO;2-5. PMID 10710235. 

Further reading[edit]

External links[edit]