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NSDHL (NAD(P) dependent steroid dehydrogenase-like), also known as H105E3, XAP104 or SDR31E1, is a 373 amino acid single-pass membrane protein expressed in brain, heart, liver, lung, kidney, skin and placenta. Belonging to the 3-beta-HSD family, NSDHL localizes to the endoplasmic reticulum and is involved in cholesterol biosynthesis. NSDHL is thought to be involved in the demethylation of sterol precursors in one of the later steps of cholesterol biosynthesis. Defects in the gene encoding NSDHL causes congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD), which is an X-linked dominant disorder of lipid metabolism with defective cholesterol biosynthesis that usually results in male lethality. CHILD is characterized by congenital hemidysplasia with ichthyosiform erythroderma and ipsilateral hypoplasia of limbs and other parts of the skeleton.
Informations pour la commande
Nom du produit | Ref. Catalogue | COND. | Prix HT | QTÉ | Favoris | |
Anticorps NSDHL (B-5) | sc-390994 | 200 µg/ml | $316.00 |