Bio Background |
This gene belongs to the superfamily of acid-sensing ion channels, which are proton-gated, amiloride-sensitive sodium channels. These channels have been implicated in synaptic transmission, pain perception as well as mechanoperception. This gene is predominantly expressed in the pituitary gland, and was considered a candidate for paroxysmal dystonic choreoathetosis (PDC), a movement disorder, however, no correlation was found between mutations in this gene and PDC. Alternative splicing at this locus results in two transcript variants encoding different isoforms. |
Bio References |
Donier, E., et al. Eur. J. Neurosci. 28(1):74-86(2008) Lamesch, P., et al. Genomics 89(3):307-315(2007) Hillier, L.W., et al. Nature 434(7034):724-731(2005) Grunder, S., et al. Eur. J. Hum. Genet. 9(9):672-676(2001) Grunder, S., et al. Neuroreport 11(8):1607-1611(2000) |