NSDHL, Official Symbol NSDHLprovided by HGNC Official Full Name NAD(P) dependent steroid dehydrogenase-likeprovided by HGNC Primary source HGNC:HGNC:13398 See related Ensembl:ENSG00000147383 MIM:300275; AllianceGenome:HGNC:13398 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as H105E3; XAP104; SDR31E1 Summary 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] Expression Ubiquitous expression in esophagus (RPKM 14.3), adrenal (RPKM 14.0) and 25 other tissues See more Orthologs mouse all