Structural highlights
Disease
[NSDHL_HUMAN] CHILD syndrome;CK syndrome. The disease is caused by mutations affecting the gene represented in this entry. The disease is caused by mutations affecting the gene represented in this entry.
Function
[NSDHL_HUMAN] Involved in the sequential removal of two C-4 methyl groups in post-squalene cholesterol biosynthesis.[1]
References
- ↑ Caldas H, Herman GE. 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. 2003 Nov 15;12(22):2981-91. doi: 10.1093/hmg/ddg321. Epub 2003 Sep, 23. PMID:14506130 doi:http://dx.doi.org/10.1093/hmg/ddg321
