Gabrd

ENCODES a protein that exhibits GABA-A receptor activity; transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential (ortholog); INVOLVED IN chemical synaptic transmission; chloride transmembrane transport (ortholog); gamma-aminobutyric acid signaling pathway (ortholog); ASSOCIATED WITH autism spectrum disorder (ortholog); chromosome 1p36 deletion syndrome (ortholog); congenital myasthenic syndrome 8 (ortholog); FOUND IN GABA-A receptor complex; GABA-ergic synapse; glutamatergic synapse; INTERACTS WITH (+)-pilocarpine; 1,3,5-trinitro-1,3,5-triazinane; 3alpha-hydroxy-5beta-pregnan-20-one

编码一种表现GABA-A受体活性的蛋白质；涉及调节突触后膜电位（同源）的递质门控单原子离子通道活性；参与化学突触传递；氯离子跨膜转运（同源）；γ-氨基丁酸信号通路（同源）；与自闭症谱系障碍（同源）、1p36染色体缺失综合征（同源）、先天性肌无力综合征8（同源）相关；存在于GABA-A受体复合物中；GABA能突触；谷氨酸能突触；与（+）-毛果芸香碱、1,3,5-三硝基-1,3,5-三氮杂环烷、3α-羟基-5β-孕甾-20-酮相互作用。