Symbol: Name: ID: |
NSDHL NAD(P) dependent steroid dehydrogenase-like GFS:2995 |
Gene name: | NSDHL |
Chromosome: | Xq28 |
Previous Symbols: | |
Previous Names: | |
Aliases: | XAP104, H105e3, SDR31E1 |
Name Aliases: | short chain dehydrogenase/reductase family 31E, member 1 |
Locus Type: | gene with protein product |
Mouse Genome Database ID: | MGI:1099438 | Rat Genome Database ID: | RGD:1359337 |
HGNC ID: | HGNC:13398 | RefSeq IDs: | NM_001129765 |
Entrez Gene ID: | 50814 | Ensembl Gene ID: | ENSG00000147383 |
VEGA IDs: | OTTHUMG00000024185 | UniProt ID: | Q15738 |
UCSC ID: | uc004fgs.1 | OMIM ID: | 300275 |
Pubmed: | PMID10710235 PMID 12837764 PMID 19027726 | ||
CCDS IDs: | CCDSCCDS14717.1 |
Sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylating is an enzyme that in humans is encoded by the 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].
Products for NSDHL gene
Catalog | Product Name | Application | Company |
GFS:E02995 | NAD(P) dependent steroid dehydrogenase-like; ELISA kit | ELISA | n/a |
GFS:A02995 | NAD(P) dependent steroid dehydrogenase-like; Anti | ANTIBODIES | n/a |
GFS:P02995 | NAD(P) dependent steroid dehydrogenase-like; Protien | Protien | n/a |