NHS (gene) explained

Nance-Horan syndrome protein is a protein that in humans is encoded by the NHS 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.

Further reading

• Stambolian D, Lewis RA, Buetow K, etal . Nance-Horan syndrome: localization within the region Xp21.1-Xp22.3 by linkage analysis . Am. J. Hum. Genet. . 47 . 1 . 13–9 . 1990 . 1971992 . 1683770 .
• Walpole SM, Ronce N, Grayson C, etal . Exclusion of RAI2 as the causative gene for Nance-Horan syndrome . Hum. Genet. . 104 . 5 . 410–1 . 1999 . 10394933 . 10.1007/s004390050976 . 5675053 .
• Toutain A, Dessay B, Ronce N, etal . Refinement of the NHS locus on chromosome Xp22.13 and analysis of five candidate genes . Eur. J. Hum. Genet. . 10 . 9 . 516–20 . 2003 . 12173028 . 10.1038/sj.ejhg.5200846 . free .
• Burdon KP, McKay JD, Sale MM, etal . 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 . 2004 . 14564667 . 10.1086/379381 . 1180491 .
• Brooks SP, Ebenezer ND, Poopalasundaram S, etal . Identification of the gene for Nance-Horan syndrome (NHS) . J. Med. Genet. . 41 . 10 . 768–71 . 2005 . 15466011 . 10.1136/jmg.2004.022517 . 1735593 .
• Ramprasad VL, Thool A, Murugan S, etal . 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 . 2005 . 15623749 . 10.1167/iovs.04-0477 . free .
• Ross MT, Grafham DV, Coffey AJ, etal . The DNA sequence of the human X chromosome . Nature . 434 . 7031 . 325–37 . 2005 . 15772651 . 10.1038/nature03440 . 2665286 . 2005Natur.434..325R .
• Sharma S, Ang SL, Shaw M, etal . Nance-Horan syndrome protein, NHS, associates with epithelial cell junctions . Hum. Mol. Genet. . 15 . 12 . 1972–83 . 2006 . 16675532 . 10.1093/hmg/ddl120 . free .
• Beausoleil SA, Villén J, Gerber SA, etal . A probability-based approach for high-throughput protein phosphorylation analysis and site localization . Nat. Biotechnol. . 24 . 10 . 1285–92 . 2006 . 16964243 . 10.1038/nbt1240 . 14294292 .
• Olsen JV, Blagoev B, Gnad F, etal . Global, in vivo, and site-specific phosphorylation dynamics in signaling networks . Cell . 127 . 3 . 635–48 . 2006 . 17081983 . 10.1016/j.cell.2006.09.026 . free .
• Huang KM, Wu J, Brooks SP, etal . Identification of three novel NHS mutations in families with Nance-Horan syndrome . Mol. Vis. . 13 . 470–4 . 2007 . 17417607 . 2647563 .

Notes and References

1. Web site: Entrez Gene: NHS Nance-Horan syndrome (congenital cataracts and dental anomalies).