NSDHL, Blocking Peptide

For Research Use Only. Not for use in diagnostic procedures.

Lyophilized powder

Add 100ul of sterile PBS. Final peptide concentration is 1 mg/ml in PBS. For longer periods of storage, store at -20 degree C. Avoid repeat freeze-thaw cycles.

Small volumes of NSDHL blocking peptide vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.

This is a synthetic peptide designed for use in combination with anti-NSDHL antibody made

Target Description: NSDHL is localized in the endoplasmic reticulum and is involved in cholesterol biosynthesis. Mutations in NSDHL 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.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.

Peptide

Western Blot (WB)

42kDa

NAD(P) dependent steroid dehydrogenase-like

sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylating

Sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylating

H105E3  [Similar Products]

NSDHL_HUMAN

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]

NSDHL: Defects in NSDHL are the cause of congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD). CHILD is an X-linked dominant disorder of lipid metabolism with disturbed cholesterol biosynthesis, which typically results in male lethality. Clinically, it is characterized by congenital, unilateral, ichthyosisform erythroderma with striking lateralization, sharp midline demarcation, and ipsilateral limb defects and hypoplasia of the body. Limbs defects range from hypoplasia of digits or ribs to complete amelia, often including scoliosis. Defects in NSDHL are the cause of CK syndrome (CKS). CKS is a disorder characterized by mild to severe cognitive impairment, seizures, microcephaly, cerebral cortical malformations, dysmorphic facial features, and thin body habitus. Belongs to the 3-beta-HSD family.

Protein type: Membrane protein, integral; Lipid Metabolism - steroid biosynthesis; Oxidoreductase; Endoplasmic reticulum; EC 1.1.1.170

Chromosomal Location of Human Ortholog: Xq28

Cellular Component: endoplasmic reticulum membrane; intracellular membrane-bound organelle; endoplasmic reticulum; integral to membrane; lipid particle

Molecular Function: 3-beta-hydroxy-delta5-steroid dehydrogenase activity; sterol-4-alpha-carboxylate 3-dehydrogenase (decarboxylating) activity

Biological Process: smoothened signaling pathway; hair follicle development; cholesterol biosynthetic process

Disease: Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects; Ck Syndrome

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