NSDHL

Last updated

NSDHL
Identifiers
Aliases NSDHL , H105E3, SDR31E1, XAP104, NAD(P) dependent steroid dehydrogenase-like
External IDs OMIM: 300275; MGI: 1099438; HomoloGene: 5951; GeneCards: NSDHL; OMA:NSDHL - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001129765
NM_015922

NM_010941

RefSeq (protein)

NP_001123237
NP_057006

NP_035071

Location (UCSC) Chr X: 152.83 – 152.87 Mb Chr X: 71.96 – 72 Mb
PubMed search [3] [4]
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. [5] [6] This enzyme is localized in the endoplasmic reticulum and is involved in cholesterol biosynthesis. [7]

Contents

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. [7] [8]

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000147383 Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000031349 Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. 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.
  6. 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. Bibcode:2009CBI...178...94P. doi:10.1016/j.cbi.2008.10.040. PMC   2896744 . PMID   19027726.
  7. 1 2 "Entrez Gene: NSDHL NAD(P) dependent steroid dehydrogenase-like". Archived from the original on 2010-03-06. Retrieved 2017-09-05.
  8. 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