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accn4

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Official Full Name
amiloride-sensitive cation channel 4, pituitary
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.
Synonyms
ACCN4; amiloride-sensitive cation channel 4, pituitary; amiloride-sensitive cation channel 4; ASIC4; BNAC4; pituitary; ACCN4_HUMAN; Acid sensing ion channel 4; Acid-sensing ion channel 4; Amiloride sensitive cation channel 4; Brain sodium channel 4

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