NHS (gene)

From Wikipedia, the free encyclopedia


Nance-Horan syndrome (congenital cataracts and dental anomalies)
Identifiers
Symbol(s) NHS; DKFZp781F2016; DKFZp781L0254; SCML1
External IDs OMIM: 300457 MGI: 2684894 HomoloGene: 18866
Orthologs
Human Mouse
Entrez 4810 195727
Ensembl ENSG00000188158 ENSMUSG00000059493
Uniprot Q6T4R5 n/a
Refseq XM_001134060 (mRNA)
XP_001134060 (protein)		 XM_112126 (mRNA)
XP_112126 (protein)
Location Chr X: 17.3 - 17.66 Mb Chr X: 157.18 - 157.5 Mb
Pubmed search [1] [2]

Nance-Horan syndrome (congenital cataracts and dental anomalies), also known as NHS, is a human gene.[1]

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. An alternative splice variant has been described, but its full-length nature has not been determined.[1]

[edit] References

  1. ^ a b Entrez Gene: NHS Nance-Horan syndrome (congenital cataracts and dental anomalies).

[edit] Further reading

  • Stambolian D, Lewis RA, Buetow K, et al. (1990). "Nance-Horan syndrome: localization within the region Xp21.1-Xp22.3 by linkage analysis.". Am. J. Hum. Genet. 47 (1): 13-9. PMID 1971992. 
  • Walpole SM, Ronce N, Grayson C, et al. (1999). "Exclusion of RAI2 as the causative gene for Nance-Horan syndrome.". Hum. Genet. 104 (5): 410-1. PMID 10394933. 
  • Toutain A, Dessay B, Ronce N, et al. (2003). "Refinement of the NHS locus on chromosome Xp22.13 and analysis of five candidate genes.". Eur. J. Hum. Genet. 10 (9): 516-20. doi:10.1038/sj.ejhg.5200846. PMID 12173028. 
  • Burdon KP, McKay JD, Sale MM, et al. (2004). "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 (5): 1120-30. PMID 14564667. 
  • Brooks SP, Ebenezer ND, Poopalasundaram S, et al. (2005). "Identification of the gene for Nance-Horan syndrome (NHS).". J. Med. Genet. 41 (10): 768-71. doi:10.1136/jmg.2004.022517. PMID 15466011. 
  • Ramprasad VL, Thool A, Murugan S, et al. (2005). "Truncating mutation in the NHS gene: phenotypic heterogeneity of Nance-Horan syndrome in an asian Indian family.". Invest. Ophthalmol. Vis. Sci. 46 (1): 17-23. doi:10.1167/iovs.04-0477. PMID 15623749. 
  • Ross MT, Grafham DV, Coffey AJ, et al. (2005). "The DNA sequence of the human X chromosome.". Nature 434 (7031): 325-37. doi:10.1038/nature03440. PMID 15772651. 
  • Sharma S, Ang SL, Shaw M, et al. (2006). "Nance-Horan syndrome protein, NHS, associates with epithelial cell junctions.". Hum. Mol. Genet. 15 (12): 1972-83. doi:10.1093/hmg/ddl120. PMID 16675532. 
  • Beausoleil SA, Villén J, Gerber SA, et al. (2006). "A probability-based approach for high-throughput protein phosphorylation analysis and site localization.". Nat. Biotechnol. 24 (10): 1285-92. doi:10.1038/nbt1240. PMID 16964243. 
  • Olsen JV, Blagoev B, Gnad F, et al. (2006). "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.". Cell 127 (3): 635-48. doi:10.1016/j.cell.2006.09.026. PMID 17081983. 
  • Huang KM, Wu J, Brooks SP, et al. (2007). "Identification of three novel NHS mutations in families with Nance-Horan syndrome.". Mol. Vis. 13: 470-4. PMID 17417607. 
 This article on a gene on the X chromosome and/or its associated protein is a stub. You can help Wikipedia by expanding it.