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Nance Horan Syndrome Protein (NHS)

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Congenital Cataracts And Dental Anomalies protein

Nance Horan Syndrome Protein (NHS)
CCC P838
HGNC 7820
MGI 2684894
PubMed 16675532
RGD 1561818
UniProt Q6T4R5
Wiki NHS
The NHS gene encodes 2 mRNA isoforms; the major isoform encodes a deduced 1,630-amino acid protein and the minor isoform encodes a deduced N-terminus truncated 1,335-amino acid protein.
The NHS protein contains 4 conserved nuclear localization signals. Northern blot analysis detected expression of 2 major transcripts of approximately 8.7 kb and 7.7 kb in all human adult and fetal tissues tested. Expression studies in mouse showed that the Nhs gene is broadly expressed throughout brain development. In situ hybridization studies showed that Nhs expression is developmentally regulated in a range of mouse embryonic tissues, including the lens, brain, craniofacial mesenchyme, and dental primordia.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Nance Horan Syndrome Protein (NHS) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Nance Horan Syndrome Protein (NHS) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Nance Horan Syndrome Protein (NHS) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Nance Horan Syndrome Protein (NHS) CLIA Kit Customized Service Offer
n/a ELISA Kit for Nance Horan Syndrome Protein (NHS) ELISA Kit Customized Service Offer

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Nance Horan Syndrome Protein (NHS) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Nance Horan Syndrome Protein (NHS) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Nance Horan Syndrome Protein (NHS) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Nance Horan Syndrome Protein (NHS) CLIA Kit Customized Service Offer
n/a ELISA Kit for Nance Horan Syndrome Protein (NHS) ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Nance Horan Syndrome Protein (NHS) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Nance Horan Syndrome Protein (NHS) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Nance Horan Syndrome Protein (NHS) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Nance Horan Syndrome Protein (NHS) CLIA Kit Customized Service Offer
n/a ELISA Kit for Nance Horan Syndrome Protein (NHS) ELISA Kit Customized Service Offer
  1. "Mutations in a novel gene, NHS, cause the pleiotropic effects of Nance-Horan syndrome, including severe congenital cataract, dental anomalies, and mental retardation." Am. J. Hum. Genet. 73:1120-1130(2003) [PubMed] [Europe PMC] [Abstract]
  2. "Nance-Horan syndrome protein, NHS, associates with epithelial cell junctions."Hum. Mol. Genet. 15:1972-1983(2006) [PubMed] [Europe PMC] [Abstract]
  3. "The DNA sequence of the human X chromosome." Nature 434:325-337(2005) [PubMed] [Europe PMC] [Abstract]
  4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
  5. "The full-ORF clone resource of the German cDNA consortium."BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]
  6. "Identification of the gene for Nance-Horan syndrome (NHS)."J. Med. Genet. 41:768-771(2004) [PubMed] [Europe PMC] [Abstract]
  7. "A probability-based approach for high-throughput protein phosphorylation analysis and site localization."Nat. Biotechnol. 24:1285-1292(2006) [PubMed] [Europe PMC] [Abstract]
  8. "A quantitative atlas of mitotic phosphorylation."Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract]
  9. "NHS-A isoform of the NHS gene is a novel interactor of ZO-1."Exp. Cell Res. 315:2358-2372(2009) [PubMed] [Europe PMC] [Abstract]
  10. "X-linked cataract and Nance-Horan syndrome are allelic disorders."Hum. Mol. Genet. 18:2643-2655(2009) [PubMed] [Europe PMC] [Abstract]
  11. "The Nance-Horan syndrome protein encodes a functional WAVE homology domain (WHD) and is important for co-ordinating actin remodelling and maintaining cell morphology."Hum. Mol. Genet. 19:2421-2432(2010) [PubMed] [Europe PMC] [Abstract]
  12. "The consensus coding sequences of human breast and colorectal cancers." Science 314:268-274(2006) [PubMed] [Europe PMC] [Abstract]