Gene Review:
SCN9A - sodium channel, voltage gated, type IX...
Homo sapiens
Synonyms:
ETHA, FEB3B, GEFSP7, HSAN2D, NE-NA, ...
- SCN9A mutations define primary erythermalgia as a neuropathic disorder of voltage gated sodium channels. Drenth, J.P., te Morsche, R.H., Guillet, G., Taieb, A., Kirby, R.L., Jansen, J.B. J. Invest. Dermatol. (2005)
- A potential novel marker for human prostate cancer: voltage-gated sodium channel expression in vivo. Diss, J.K., Stewart, D., Pani, F., Foster, C.S., Walker, M.M., Patel, A., Djamgoz, M.B. Prostate Cancer Prostatic Dis. (2005)
- Accumulation of PN1 and PN3 sodium channels in painful human neuroma-evidence from immunocytochemistry. Kretschmer, T., Happel, L.T., England, J.D., Nguyen, D.H., Tiel, R.L., Beuerman, R.W., Kline, D.G. Acta neurochirurgica. (2002)
- SCN9A Mutations in Paroxysmal Extreme Pain Disorder: Allelic Variants Underlie Distinct Channel Defects and Phenotypes. Fertleman, C.R., Baker, M.D., Parker, K.A., Moffatt, S., Elmslie, F.V., Abrahamsen, B., Ostman, J., Klugbauer, N., Wood, J.N., Gardiner, R.M., Rees, M. Neuron (2006)
- Mechanism of thrombin clearance by human astrocytoma cells. Mentz, S., de Lacalle, S., Baerga-Ortiz, A., Knauer, M.F., Knauer, D.J., Komives, E.A. J. Neurochem. (1999)
- Structure and functional expression of a new member of the tetrodotoxin-sensitive voltage-activated sodium channel family from human neuroendocrine cells. Klugbauer, N., Lacinova, L., Flockerzi, V., Hofmann, F. EMBO J. (1995)
- Expression of alternatively spliced sodium channel alpha-subunit genes. Unique splicing patterns are observed in dorsal root ganglia. Raymond, C.K., Castle, J., Garrett-Engele, P., Armour, C.D., Kan, Z., Tsinoremas, N., Johnson, J.M. J. Biol. Chem. (2004)
- Genetic heterogeneity and exclusion of a modifying locus at 2q in a family with autosomal dominant primary erythermalgia. Burns, T.M., Te Morsche, R.H., Jansen, J.B., Drenth, J.P. Br. J. Dermatol. (2005)
- Stable expression and characterization of human PN1 and PN3 sodium channels. Akiba, I., Seki, T., Mori, M., Iizuka, M., Nishimura, S., Sasaki, S., Imoto, K., Barsoumian, E.L. Recept. Channels (2003)
- Voltage-gated sodium channel expressed in cultured human smooth muscle cells: involvement of SCN9A. Jo, T., Nagata, T., Iida, H., Imuta, H., Iwasawa, K., Ma, J., Hara, K., Omata, M., Nagai, R., Takizawa, H., Nagase, T., Nakajima, T. FEBS Lett. (2004)
- Gain-of-function mutation in Nav1.7 in familial erythromelalgia induces bursting of sensory neurons. Dib-Hajj, S.D., Rush, A.M., Cummins, T.R., Hisama, F.M., Novella, S., Tyrrell, L., Marshall, L., Waxman, S.G. Brain (2005)
- Potent modulation of the voltage-gated sodium channel Nav1.7 by OD1, a toxin from the scorpion Odonthobuthus doriae. Maertens, C., Cuypers, E., Amininasab, M., Jalali, A., Vatanpour, H., Tytgat, J. Mol. Pharmacol. (2006)
- Inhibition of prostasin-induced ENaC activities by PN-1 and regulation of PN-1 expression by TGF-beta1 and aldosterone. Wakida, N., Kitamura, K., Tuyen, D.G., Maekawa, A., Miyoshi, T., Adachi, M., Shiraishi, N., Ko, T., Ha, V., Nonoguchi, H., Tomita, K. Kidney Int. (2006)
- Activation of ERK signaling upon alternative protease nexin-1 internalization mediated by syndecan-1. Li, X., Herz, J., Monard, D. J. Cell. Biochem. (2006)
- Mutations in SCN9A, encoding a sodium channel alpha subunit, in patients with primary erythermalgia. Yang, Y., Wang, Y., Li, S., Xu, Z., Li, H., Ma, L., Fan, J., Bu, D., Liu, B., Fan, Z., Wu, G., Jin, J., Ding, B., Zhu, X., Shen, Y. J. Med. Genet. (2004)
- Voltage-gated sodium channels and pain pathways. Wood, J.N., Boorman, J.P., Okuse, K., Baker, M.D. J. Neurobiol. (2004)
- Characterization of ionic currents in human mesenchymal stem cells from bone marrow. Li, G.R., Sun, H., Deng, X., Lau, C.P. Stem Cells (2005)
- Painful channels. Catterall, W.A., Yu, F.H. Neuron (2006)
- An SCN9A channelopathy causes congenital inability to experience pain. Cox, J.J., Reimann, F., Nicholas, A.K., Thornton, G., Roberts, E., Springell, K., Karbani, G., Jafri, H., Mannan, J., Raashid, Y., Al-Gazali, L., Hamamy, H., Valente, E.M., Gorman, S., Williams, R., McHale, D.P., Wood, J.N., Gribble, F.M., Woods, C.G. Nature (2006)