Species: Hu, Mu, Rt
Applications: WB, ICC/IF, IHC
Host: Rabbit Polyclonal
Species: Hu
Applications: WB, ICC/IF, IHC
Host: Rabbit Polyclonal
Species: Hu, Mu, Rt
Applications: WB, Flow, ICC/IF, IHC
Host: Rabbit Monoclonal
Species: Hu
Applications: PAGE
Species: Hu
Applications: AC
Species: Hu
Applications: AC
Description
NSDHL is 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]
Bioinformatics
| Uniprot |
Human Human Human |
| Product By Gene ID |
50814 |
| Alternate Names |
- EC 1.1.1.170
- H105E3
- H105e3
- member 1
- NAD(P) dependent steroid dehydrogenase-like
- SDR31E1
- sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylating
- XAP104
|