Rabbit anti-Human NSDHL Polyclonal Antibody | anti-NSDHL antibody

Anti-NSDHL Antibody, Rabbit Polyclonal

Cat. Num. AAA8102064

• Gene Names: NSDHL; H105E3; XAP104; SDR31E1
• Reactivity: Human
• Applications: Western Blot
• Purity: Protein A & Antigen Affinity
• Synonyms: NSDHL; Polyclonal Antibody; Anti-NSDHL Antibody; Rabbit Polyclonal; NSDHL Antibody; Rabbit PAb; Antigen Affinity Purified; NAD(P) dependent steroid dehydrogenase-like; Anti-H105E3 Antibody; Anti-SDR31E1 Antibody; Anti-XAP104 Antibody; anti-NSDHL antibody

• Host: Rabbit
• Reactivity: Human
• Clonality: Polyclonal
• Isotype: Rabbit IgG
• Specificity: Human NSDHL
• Purity/Purification: Protein A & Antigen Affinity
• Form/Format: Liquid; 0.2um filtered solution in PBS

• Applicable Applications for anti-NSDHL antibody: Western Blot (WB)
• Application Notes: WB: 1:500-1:1000
• Immunogen: A synthetic peptide corresponding to the N-terminus of the Human NSDHL
• Conjugation: Unconjugated
• Preparation: Produced in rabbits immunized with a synthetic peptide corresponding to the N-terminus of the Human NSDHL, and purified by antigen affinity chromatography.
• Preparation and Storage: This antibody can be stored at 2-8 degree C for one month without detectable loss of activity. Antibody products are stable for twelve months from date of receipt when stored at -20 degree C to -80 degree C. Preservative-Free. Avoid repeated freeze-thaw cycles.

Western Blot (WB)

(Anti-NSDHL rabbit polyclonal antibody at 1:500 dilutionLane A: A431 Whole Cell LysateLane B: HepG2 Whole Cell LysateLysates/proteins at 30 ug per lane.SecondaryGoat Anti- Rabbit  IgG H&L (Dylight 800)  at 1/10000 dilution.Developed using the Odyssey technique. Performed under reducing conditions.Predicted band size:42 kDaObserved band size:39 kDa)

Related Product Information for anti-NSDHL antibody

NSDHL (NAD(P) Dependent Steroid Dehydrogenase-Like) is a Protein Coding gene. The protein encoded by this gene is localized in the endoplasmic reticulum and belongs to the 3-beta-HSD family. The NSDHL gene encodes 3-beta-hydroxysteroid dehydrogenase involved in one of the later steps of the cholesterol biosynthetic pathway. It is involved in the sequential removal of two C-4 methyl groups in post-squalene cholesterol biosynthesis. NSDHL is widely expressed in the esophagus, adrenal, and other tissues. Mutations in this gene can cause CHILD syndrome and CK syndrome. CHILD syndrome is an X-linked dominant, male lethal disorder caused by mutations in the NSDHL gene that result in the loss of the function of the NSDHL protein.

NCBI and Uniprot Product Information

• NCBI GI #: 8488997
• NCBI GeneID: 50814
• UniProt Accession #: Q15738; O00344; D3DWT6
• Molecular Weight: 373
• NCBI Official Full Name: Sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylating
• NCBI Official Synonym Full Names: NAD(P) dependent steroid dehydrogenase-like
• NCBI Official Symbol: NSDHL
• NCBI Official Synonym Symbols: H105E3; XAP104; SDR31E1
• NCBI Protein Information: sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylating; protein H105e3; short chain dehydrogenase/reductase family 31E, member 1
• UniProt Protein Name: Sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylating
• UniProt Gene Name: NSDHL
• UniProt Synonym Gene Names: H105E3
• UniProt Entry Name: NSDHL_HUMAN

NCBI 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. [provided by RefSeq, Jul 2008]

Uniprot Description

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