Biology:NHS (gene)
From HandWiki
Short description: Protein-coding gene in the species Homo sapiens
 Generic protein structure example |
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.[1]
References
Further reading
- "Nance-Horan syndrome: localization within the region Xp21.1-Xp22.3 by linkage analysis". Am. J. Hum. Genet. 47 (1): 13–9. 1990. PMID 1971992.
- "Exclusion of RAI2 as the causative gene for Nance-Horan syndrome". Hum. Genet. 104 (5): 410–1. 1999. doi:10.1007/s004390050976. PMID 10394933.
- "Refinement of the NHS locus on chromosome Xp22.13 and analysis of five candidate genes". Eur. J. Hum. Genet. 10 (9): 516–20. 2003. doi:10.1038/sj.ejhg.5200846. PMID 12173028.
- "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. doi:10.1086/379381. PMID 14564667.
- "Identification of the gene for Nance-Horan syndrome (NHS)". J. Med. Genet. 41 (10): 768–71. 2005. doi:10.1136/jmg.2004.022517. PMID 15466011.
- "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. doi:10.1167/iovs.04-0477. PMID 15623749.
- "The DNA sequence of the human X chromosome". Nature 434 (7031): 325–37. 2005. doi:10.1038/nature03440. PMID 15772651. Bibcode: 2005Natur.434..325R.
- "Nance-Horan syndrome protein, NHS, associates with epithelial cell junctions". Hum. Mol. Genet. 15 (12): 1972–83. 2006. doi:10.1093/hmg/ddl120. PMID 16675532.
- "A probability-based approach for high-throughput protein phosphorylation analysis and site localization". Nat. Biotechnol. 24 (10): 1285–92. 2006. doi:10.1038/nbt1240. PMID 16964243.
- "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks". Cell 127 (3): 635–48. 2006. doi:10.1016/j.cell.2006.09.026. PMID 17081983.
- "Identification of three novel NHS mutations in families with Nance-Horan syndrome". Mol. Vis. 13: 470–4. 2007. PMID 17417607.
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