NSDHL sirna

NSDHL siRNA (Human)

Cat. Num. AAA8200947

• Gene Names: NSDHL; H105E3; XAP104; SDR31E1
• Reactivity: Human
• Applications: RNA Interference (RNAi)
• Purity: > 97%
• Synonyms: NSDHL; NSDHL siRNA (Human); H105E3; Sterol-4-alpha-carboxylate 3-dehydrogenase. decarboxylating; Protein H105e3; NSDHL sirna

• Host: Synthetic
• Reactivity: Human
• Specificity: NSDHL siRNA (Human) is a target-specific 19-23 nt siRNA oligo duplexes designed to knock down gene expression.
• Purity/Purification: > 97%
• Form/Format: Lyophilized powder
• Sequence Length: 373

• Applicable Applications for NSDHL sirna: RNA Interference (RNAi)
• Quality Control: Oligonucleotide synthesis is monitored base by base through trityl analysis to ensure appropriate coupling efficiency. The oligo is subsequently purified by affinity-solid phase extraction. The annealed RNA duplex is further analyzed by mass spectrometry to verify the exact composition of the duplex. Each lot is compared to the previous lot by mass spectrometry to ensure maximum lot-to-lot consistency.
• Directions for Use: We recommends transfection with 100 nM siRNA 48 to 72 hours prior to cell lysis. Before resuspending, briefly centrifuge the tube to ensure the lyophilized siRNA is at the bottom of the tube. Resuspend the siRNA oligos to an appropriate concentration with DEPC water. For each vial, suitable for 250 transfections in 24 well plate (20 pmol for each well).
• Components: We offer pre-designed sets of 3 different target-specific siRNA oligo duplexes of human NSDHL gene. Each vial contains 5 nmol of lyophilized siRNA. The duplexes can be transfected individually or pooled together to achieve knockdown of the target gene, which is most commonly assessed by qPCR or western blot. Our siRNA oligos are also chemically modified (2'-OMe) at no extra charge for increased stability and enhanced knockdown in vitro and in vivo.
• Preparation and Storage: Shipped at 4 degree C. Store at -20 degree C for one year.

Related Product Information for NSDHL sirna

siRNA to inhibit NSDHL expression using RNA interference

NCBI and Uniprot Product Information

• NCBI GI #: 193211614
• NCBI GeneID: 50814
• NCBI Accession #: NP_001123237.1
• NCBI GenBank Nucleotide #: NM_001129765.1
• UniProt Accession #: Q15738; O00344; D3DWT6
• Molecular Weight: 41,900 Da
• 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
• 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: Lipid Metabolism - steroid biosynthesis; Membrane protein, integral; Endoplasmic reticulum; EC 1.1.1.170; Oxidoreductase

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