NHS (gene)
| Nance-Horan syndrome (congenital cataracts and dental anomalies) | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| Identifiers | |||||||||||
| Symbols | NHS ; CXN; SCML1 | ||||||||||
| External IDs | OMIM: 300457 MGI: 2684894 HomoloGene: 18866 GeneCards: NHS Gene | ||||||||||
| |||||||||||
| Orthologs | |||||||||||
| Species | Human | Mouse | |||||||||
| Entrez | 4810 | 195727 | |||||||||
| Ensembl | ENSG00000188158 | ENSMUSG00000059493 | |||||||||
| UniProt | Q6T4R5 | B1AV60 | |||||||||
| RefSeq (mRNA) | NM_001136024 | NM_001081052 | |||||||||
| RefSeq (protein) | NP_001129496 | NP_001074521 | |||||||||
| Location (UCSC) | Chr X: 17.39 – 17.75 Mb | Chr X: 161.83 – 162.16 Mb | |||||||||
| PubMed search | |||||||||||
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
- 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. PMC 1683770. 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. doi:10.1007/s004390050976. 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. doi:10.1086/379381. PMC 1180491. 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. PMC 1735593. 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. PMC 2665286. 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. PMC 2647563. PMID 17417607.