Entrez gene ID | | 55515 |
Official gene symbol | | ASIC4 |
Full name | | amiloride-sensitive cation channel 4, pituitary |
Aliases | | ,ACCN4,BNAC4, |
Gene summary | | 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. [provided by RefSeq] |
Location | | Chromosome: 2 Locus: 2q35 |
Gene position | | 220378892 - 220403494 Map Viewer |
Gene orientation | | plus |
Gene size | | 24603 bp |
Gene sequence |
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OMIM ID | | 606715 |
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