NHS sirna

NHS siRNA (Human)

Cat. Num. AAA8238538

• Gene Names: NHS; CXN; SCML1; CTRCT40
• Reactivity: Human
• Applications: RNA Interference (RNAi)
• Purity: > 97%
• Synonyms: NHS; NHS siRNA (Human); Nance-Horan syndrome protein; Congenital cataracts and dental anomalies protein; NHS sirna

• Host: Synthetic
• Reactivity: Human
• Specificity: NHS 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: 1474

• Applicable Applications for NHS 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 NHS 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 NHS sirna

siRNA to inhibit NHS expression using RNA interference

NCBI and Uniprot Product Information

• NCBI GI #: 209862849
• NCBI GeneID: 4810
• NCBI Accession #: NP_001129496.1
• NCBI GenBank Nucleotide #: NM_001136024.3
• UniProt Accession #: Q6T4R5; Q5J7Q0; Q5J7Q1; Q68DR5; B7ZVX8; E2DH69
• Molecular Weight: 160,753 Da
• NCBI Official Full Name: Nance-Horan syndrome protein isoform 2
• NCBI Official Synonym Full Names: Nance-Horan syndrome (congenital cataracts and dental anomalies)
• NCBI Official Symbol: NHS
• NCBI Official Synonym Symbols: CXN; SCML1; CTRCT40
• NCBI Protein Information: Nance-Horan syndrome protein
• UniProt Protein Name: Nance-Horan syndrome protein
• Protein Family: NHS-like protein
• UniProt Gene Name: NHS
• UniProt Entry Name: NHS_HUMAN

NCBI Description

This gene encodes a protein containing four conserved nuclear localization signals. The encoded protein functions in eye, tooth, craniofacial and brain development, and it can regulate actin remodeling and cell morphology. Mutations in this gene have been shown to cause Nance-Horan syndrome, and also X-linked cataract-40. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, May 2014]

Uniprot Description

NHS: Unknown. May have a key functions in the regulation of eye, tooth, brain and craniofacial development. Defects in NHS are the cause of Nance-Horan syndrome (NHS); also known as cataract-dental syndrome. NHS is a rare X-linked disorder characterized by congenital cataracts, dental anomalies, dysmorphic features, and, in some cases, mental retardation. Distinctive dental anomalies are seen in affected males, including supernumerary incisors and crown shaped permanent teeth. Characteristic facial features are anteverted pinnae, long face, and prominent nasal bridge and nose. Carrier females display milder variable symptoms of disease with lens opacities often involving the posterior Y sutures, and on occasion dental anomalies and the characteristic facial features described. Defects in NHS are the cause of cataract congenital X- linked (CXN). A X-linked form of cataract, manifesting as a congenital nuclear opacity with severe visual impairment in affected males. Heterozygous females have suture cataracts and only slight reduction in vision. Caused by copy number variations predicted to result in altered transcriptional regulation of the NHS gene: a 0.8 Mb segmental duplication- triplication encompassing the NHS, SCML1 and RAI2 genes, and an 4.8 kb intragenic deletion in NHS intron 1. Belongs to the NHS family. 3 isoforms of the human protein are produced by alternative splicing.

Protein type: Cell adhesion

Chromosomal Location of Human Ortholog: Xp22.13

Cellular Component: tight junction; focal adhesion; lamellipodium; apical plasma membrane; cytoplasm

Biological Process: lens development in camera-type eye; cell differentiation

Disease: Cataract 40; Nance-horan Syndrome