NSDHL

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NSDHL
Identifiers
Aliases NSDHL, H105E3, SDR31E1, XAP104, NAD(P) dependent steroid dehydrogenase-like
External IDs MGI: 1099438 HomoloGene: 5951 GeneCards: NSDHL
RNA expression pattern
PBB GE NSDHL 209279 s at fs.png

PBB GE NSDHL 215093 at fs.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001129765
NM_015922

NM_010941

RefSeq (protein)

NP_001123237
NP_057006

NP_035071.3
NP_035071

Location (UCSC) Chr X: 152.83 – 152.87 Mb Chr X: 72.92 – 72.96 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/Edit Mouse

Sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylating is an enzyme that in humans is encoded by the NSDHL gene.[3][4] This enzyme is localized in the endoplasmic reticulum and is involved in cholesterol biosynthesis.[5]

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.[5][6]

References[edit]

  1. ^ "Human PubMed Reference:". 
  2. ^ "Mouse PubMed Reference:". 
  3. ^ 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. 
  4. ^ 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 2896744Freely accessible. PMID 19027726. 
  5. ^ a b "Entrez Gene: NSDHL NAD(P) dependent steroid dehydrogenase-like". 
  6. ^ 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]