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Immunogen sequence: GLLAREGQGR EALASPSSRG QMPIEIVCKI KFAEEDAKPK EKEAGDEQSL LGAVAPGAAP RDLATFASTS TLH
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.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: acid sensing (proton gated) ion channel family member 4; acid sensing ion channel family member 4; acid-sensing (proton-gated) ion channel family member 4; Acid-sensing ion channel 4; Amiloride-sensitive cation channel 4; Amiloride-sensitive cation channel 4, pituitary; amiloride-sensitive cation channel family member 4, pituitary; ASIC4; brain sodium channel 4; MGC17248; MGC24860
基因别名: ACCN4; ASIC4; BNAC4
UniProt ID: (Human) Q96FT7
Entrez Gene ID: (Human) 55515