Aliases for NSDHL Gene
External Ids for NSDHL Gene
Previous GeneCards Identifiers for NSDHL Gene
The protein encoded by this gene is localized in the endoplasmic reticulum and is involved in cholesterol biosynthesis. Mutations in this 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. Alternatively spliced transcript variants with differing 5' UTR have been found for this gene. [provided by RefSeq, Jul 2008]
GeneCards Summary for NSDHL Gene
NSDHL (NAD(P) Dependent Steroid Dehydrogenase-Like) is a Protein Coding gene. Diseases associated with NSDHL include Child Syndrome and Ck Syndrome. Among its related pathways are Terpenoid backbone biosynthesis and cholesterol biosynthesis II (via 24,25-dihydrolanosterol). GO annotations related to this gene include oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor and 3-beta-hydroxy-delta5-steroid dehydrogenase activity. An important paralog of this gene is SDR42E2.
UniProtKB/Swiss-Prot for NSDHL Gene
Involved in the sequential removal of two C-4 methyl groups in post-squalene cholesterol biosynthesis.