{"symbol":"NSDHL","synonyms":["SDR31E1","XAP104","H105E3"],"name":"NAD(P) dependent steroid dehydrogenase-like","description":"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\u0027 UTR have been found for this gene. [provided by RefSeq, Jul 2008]","ncbiEntrezGeneId":50814,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/50814","proteins":[{"symbol":"NSDHL_HUMAN","href":"/api/1.0/protein/NSDHL_HUMAN"}],"hgncRootFamilies":[{"name":"Short chain dehydrogenase/reductase superfamily (SDR)","href":"/api/1.0/gene_family/Short+chain+dehydrogenase%24slash%24reductase+superfamily+%28SDR%29"}]}