Recombinant Human NSDHL cell lysate

• Cat.No.: NSDHL-1223HCL

Specification

• 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 UTR have been found for this gene.
• Species: Human
• Size: 100 ul
• Storage Buffer: 1X Sample Buffer (50 mM Tris-HCl, 2% SDS, 10% glycerol, 300 mM 2-mercaptoethanol, 0.01% Bromophenol blue)
• Applications: Western Blot

Gene Information

• Gene Name: NSDHL NAD(P) dependent steroid dehydrogenase-like [ Homo sapiens ]
• Official Symbol: NSDHL
• Synonyms: NSDHL; NAD(P) dependent steroid dehydrogenase-like; sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylating; H105e3; SDR31E1; short chain dehydrogenase/reductase family 31E; member 1; XAP104; protein H105e3; short chain dehydrogenase/reductase family 31E, member 1; H105E3
• Gene ID: 50814
• mRNA Refseq: NM_001129765
• Protein Refseq: NP_001123237
• MIM: 300275
• UniProt ID: Q15738
• Chromosome Location: Xq28
• Pathway: Cholesterol Biosynthesis, organism-specific biosystem; Cholesterol biosynthesis, organism-specific biosystem; Cholesterol biosynthesis, squalene 2,3-epoxide =>cholesterol, organism-specific biosystem; Cholesterol biosynthesis, squalene 2,3-epoxide => cholesterol, conserved biosystem; Metabolic pathways, organism-specific biosystem
• Function: 3-beta-hydroxy-delta5-steroid dehydrogenase activity; nucleotide binding; oxidoreductase activity; sterol-4-alpha-carboxylate 3-dehydrogenase (decarboxylating) activity