anti-Nance-Horan Syndrome (Congenital Cataracts and Dental Anomalies) (Nhs) Antibodies

Nhs encodes a protein containing four conserved nuclear localization signals. Additionally we are shipping and many more products for this protein.

list all antibodies Gene Name GeneID UniProt
Nhs 4810 Q6T4R5
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Top anti-Nhs Antibodies at antibodies-online.com

Showing 5 out of 5 products:

Catalog No. Reactivity Host Conjugate Application Images Quantity Supplier Delivery Price Details
Human Rabbit Un-conjugated ICC, IF, IHC, IHC (p) Immunocytochemistry/Immunofluorescence: NHS Antibody [NBP1-86329] - Immunofluorescent staining of human cell line U-2 OS shows positivity in nucleus but not nucleoli. Immunohistochemistry-Paraffin: NHS Antibody [NBP1-86329] - Staining of human liver shows strong cytoplasmic positivity( granular pattern) in hepatocytes. 0.1 mL Log in to see 10 to 13 Days
$439.69
Details
Human Mouse Un-conjugated IF, ELISA, WB Detection limit for recombinant GST tagged NHS is 0.03 ng/ml as a capture antibody. Western Blot detection against Immunogen (36.52 KDa) . 100 μg Log in to see 11 to 12 Days
$430.00
Details
Human Rabbit Un-conjugated ICC, IF Immunocytochemistry/Immunofluorescence: NHS Antibody  - Staining of human cell line RT4 shows localization to nuclear bodies & cell junctions. 100 μL Log in to see 10 to 13 Days
$439.69
Details
Human Mouse Un-conjugated ELISA, WB   100 μg Log in to see 7 to 9 Days
$537.17
Details
Human Mouse Un-conjugated ELISA (Capture), ELISA, WB   100 μg Log in to see 6 to 8 Days
$491.70
Details

Nhs Antibodies by Reactivity, Application, Clonality and Conjugate

Attributes Applications Host Clonality
Human , ,
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More Antibodies against Nhs Interaction Partners

Human Nance-Horan Syndrome (Congenital Cataracts and Dental Anomalies) (Nhs) interaction partners

  1. Results revealed a novel splice site mutation (NM_198270: c.1045 + 2T > A) in the 5' consensus donor site of intron 4 in the NHS gene in a Chinese family. This mutation led to aberrantly spliced mRNA, which is likely to result in a truncated NHS protein.

  2. Our findings broaden the spectrum of NHS mutations causing Nance-Horan syndrome and phenotypic spectrum of the disease in Chinese patients.

  3. mutations in NHS are the common cause of congenital cataract

  4. Identification of a previously unreported frameshift mutation (c.558insA) in exon 1 of the NHS gene in a Turkish family with Nance-Horan Syndrome.

  5. Lens opacities centered around the posterior Y-suture in the context of certain facial features were sensitive and specific clinical signs of carrier status for NHS mutation in asymptomatic females.

  6. Direct sequencing of NHS sequences in a Tunisian family identified the first missense mutation (P551S) and a reported SNP-polymorphism (L1319F) in exon 6, a reported UTR (show UTS2R Antibodies)-SNP (c.7422 C>T) and a novel one (c.8239 T>A) in exon 8.

  7. these data identify NHS as a new regulator of actin remodelling.

  8. independent identification of the gene (NHS)causative for Nance-Horan syndrome and extends the number of mutations identified

  9. We demonstrate the differential expression of the two NHS isoforms, NHS-A and NHS-1A, and differences in the subcellular localization of the proteins encoded by these isoforms.

  10. identification of the frequency and distribution of NHS gene mutations and comparison of genotype with Nance-Horan phenotype in five North American NHS families; this report extends the number of unique identified NHS mutations to 14

Nhs Antigen Profile

Protein Summary

This gene encodes a protein containing four conserved nuclear localization signals. The encoded protein may function during the development of the eyes, teeth, and brain. Mutations in this gene have been shown to cause Nance-Horan syndrome. Alternatively spliced transcript variants encoding different isoforms have been described for this gene.

Gene names and symbols associated with Nhs

  • Nance-Horan syndrome (congenital cataracts and dental anomalies) (NHS) antibody
  • CTRCT40 antibody
  • CXN antibody
  • SCML1 antibody

Protein level used designations for Nhs

Nance-Horan syndrome protein , congenital cataracts and dental anomalies protein

GENE ID SPECIES
4810 Homo sapiens
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