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
How to order from antibodies-online
  • +1 877 302 8632
  • +1 888 205 9894 (toll-free)
  • Order online
  • orders@antibodies-online.com

Top anti-Nhs Antibodies at antibodies-online.com

Showing 4 out of 4 products:

Catalog No. Reactivity Host Conjugate Application Images Quantity Delivery Price Details
Human Rabbit Un-conjugated WB Western blot analysis of extracts of various cell lines, using NHS antibody (ABIN6293547) at 1:1000 dilution. Secondary antibody: HRP Goat Anti-Rabbit IgG (H+L) at 1:10000 dilution. Lysates/proteins: 25ug per lane. Blocking buffer: 3% nonfat dry milk in TBST. Detection: ECL Basic Kit. Exposure time: 30s. 50 μL 11 to 13 Days
$305.01
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 11 to 12 Days
$440.00
Details
Human Mouse Un-conjugated ELISA, WB   100 μg 11 to 14 Days
$551.83
Details
Human Mouse Un-conjugated ELISA, WB   100 μg 6 to 8 Days
$491.70
Details

More Antibodies against Nhs Interaction Partners

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

  1. Nance-Horan syndrome (NHS) is an X-linked inheritance disorder characterized by bilateral congenital cataracts, and facial and dental dysmorphism. This disorder is caused by mutations in the NHS gene. However, NHS may be difficult to detect in individuals with subtle facial dysmorphism and dental abnormalities in whom congenital cataracts are the primary clinical manifestations.

  2. A novel small deletion in the NHS gene is associated with Nance-Horan syndrome in a Chinese pedigree.

  3. Here, we report a microdeletion of 170,6 Kb at Xp22.13 (17.733.948-17.904.576) (GRCh37/hg19).The microdeletion harbors the NHS, SCLML1, and RAI2 genes and results in a phenotype consistent with Nance-Horan syndromesyndrome and developmental delay.

  4. This is the first report of Nance-Horan syndrome due to a skewed X chromosome inactivation resulting from a balanced translocation t(X;1) that disrupts the NHS gene expression, with important implications for clinical presentation and genetic counseling.

  5. Our study expands the repertoire of NHS mutations and the related phenotype, including newly described anterior Y-sutural cataract and dental findings.

  6. 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.

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

  8. A nonsense mutation c.322G>T (E108X) co-segregated with the disease in a family. Multiple sequence alignments showed that codon 108, where the mutation (c.322G>T) occurred, was located within a phylogenetically conserved region.

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

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

  11. 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.

  12. 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-SNP (c.7422 C>T) and a novel one (c.8239 T>A) in exon 8.

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

  14. key functions in the regulation of eye, tooth, brain, and craniofacial development

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

  16. X-linked families with cataract should be carefully examined for both ocular and nonocular features, to exclude Nance-Horan syndrome.

  17. 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.

  18. 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

  19. This study aimed to identify the causative mutations in new patients diagnosed with Nance-Horan syndrome and to investigate the effect of mutations on subcellular localization of the NHS-A protein.

  20. Four novel protein truncation mutations and a large deletion of the NHS gene lead to Nance-Horan syndrome.

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

  • NHS actin remodeling regulator (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
Selected quality suppliers for anti-Nhs (Nhs) Antibodies
Did you look for something else?