The world's first wiki where authorship really matters (Nature Genetics, 2008). Due credit and reputation for authors. Imagine a global collaborative knowledge base for original thoughts. Search thousands of articles and collaborate with scientists around the globe.

wikigene or wiki gene protein drug chemical gene disease author authorship tracking collaborative publishing evolutionary knowledge reputation system wiki2.0 global collaboration genes proteins drugs chemicals diseases compound
Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)



Gene Review

NSDHL  -  NAD(P) dependent steroid dehydrogenase-like

Homo sapiens

Synonyms: H105E3, H105e3, Protein H105e3, SDR31E1, Sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylating, ...
Welcome! If you are familiar with the subject of this article, you can contribute to this open access knowledge base by deleting incorrect information, restructuring or completely rewriting any text. Read more.

Disease relevance of NSDHL


High impact information on NSDHL

  • In addition to an ER localization commonly found for enzymes of post-squalene cholesterol biosynthesis, we have identified a novel association of NSDHL with lipid droplets, which are endoplasmic reticulum (ER)-derived cytoplasmic structures that contain a neutral lipid core [2].
  • The dual localization of NSDHL within ER membranes and on the surface of lipid droplets may provide another mechanism for regulation of the levels and sites of accumulation of intracellular cholesterol [2].
  • Analysis of the NSDHL gene showed missense mutation c.370G-->A in these 5 patients [3].
  • (2) Known CHILD syndrome mutations in exons 4 and 6 of the NSDHL gene do not contribute to the histogenesis of sporadic VXs [1].
  • DESIGN: DNA was extracted from paraffin-embedded tissue, followed by polymerase chain reaction amplification of exons 4 and 6 of the NSDHL gene [1].

Biological context of NSDHL

  • We identified a novel missense mutation in NSDHL that potentially may impair protein function [4].
  • Recently, we elucidated the underlying gene defect by demonstrating point mutations in NSDHL (NAD[P]H steroid dehydrogenase-like protein) at Xq28 in 6 patients with classic CHILD syndrome [4].
  • Apparently, the effect of random X-inactivation is responsible for different patterns of cutaneous involvement in female carriers of NSDHL mutations [4].
  • The phenotype was shown to be associated with a deletion of exons 6-8 of the X-linked NSDHL gene, confirming that CHILD syndrome is due to loss of function of an enzyme involved in cholesterol biosynthesis [5].

Associations of NSDHL with chemical compounds


Analytical, diagnostic and therapeutic context of NSDHL

  • SSCA and genomic sequence analysis of NSDHL identified in 6 patients with CHILD syndrome, including one boy as well as a mother and her daughter, mutations potentially impairing protein function [6].


  1. A novel somatic mutation of the 3beta-hydroxysteroid dehydrogenase gene in sporadic cutaneous verruciform xanthoma. Mehra, S., Li, L., Fan, C.Y., Smoller, B., Morgan, M., Somach, S. Archives of dermatology. (2005) [Pubmed]
  2. NSDHL, an enzyme involved in cholesterol biosynthesis, traffics through the Golgi and accumulates on ER membranes and on the surface of lipid droplets. Caldas, H., Herman, G.E. Hum. Mol. Genet. (2003) [Pubmed]
  3. CHILD syndrome in 3 generations: the importance of mild or minimal skin lesions. Bittar, M., Happle, R., Grzeschik, K.H., Leveleki, L., Hertl, M., Bornholdt, D., König, A. Archives of dermatology. (2006) [Pubmed]
  4. A novel missense mutation of NSDHL in an unusual case of CHILD syndrome showing bilateral, almost symmetric involvement. König, A., Happle, R., Fink-Puches, R., Soyer, H.P., Bornholdt, D., Engel, H., Grzeschik, K.H. J. Am. Acad. Dermatol. (2002) [Pubmed]
  5. CHILD syndrome caused by a deletion of exons 6-8 of the NSDHL gene. Kim, C.A., Konig, A., Bertola, D.R., Albano, L.M., Gattás, G.J., Bornholdt, D., Leveleki, L., Happle, R., Grzeschik, K.H. Dermatology (Basel) (2005) [Pubmed]
  6. Mutations in the NSDHL gene, encoding a 3beta-hydroxysteroid dehydrogenase, cause CHILD syndrome. König, A., Happle, R., Bornholdt, D., Engel, H., Grzeschik, K.H. Am. J. Med. Genet. (2000) [Pubmed]
WikiGenes - Universities