功能： disease:Defects in GLRB are a cause of startle disease (STHE) [MIM:149400]; also known as hereditary hyperekplexia or congenital stiff-person syndrome. STHE is a genetically heterogeneous neurologic disorder characterized by muscular rigidity of central nervous system origin, particularly in the neonatal period, and by an exaggerated startle response to unexpected acoustic or tactile stimuli. Inheritance can be autosomal dominant or recessive.,function:The glycine receptor is a neurotransmitter-gated ion channel. Binding of glycine to its receptor increases the chloride conductance and thus produces hyperpolarization (inhibition of neuronal firing).,similarity:Belongs to the ligand-gated ionic channel (TC 1.A.9) family.,subunit:Pentamer composed of alpha and beta subunits. Interacts with GPHN.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Cell junction, synapse, postsynaptic cell membrane ; Multi-pass membrane protein . Cell junction, synapse . Cell projection, dendrite . Cell membrane ; Multi-pass membrane protein . Cytoplasm . Retained in the cytoplasm upon heterologous expression by itself. Coexpression with GPHN promotes expression at the cell membrane (PubMed:12684523). Coexpression with GLRA1, GLRA2 or GLRA3 promotes expression at the cell membrane. .
功能： disease:Defects in GLRB are a cause of startle disease (STHE) [MIM:149400]; also known as hereditary hyperekplexia or congenital stiff-person syndrome. STHE is a genetically heterogeneous neurologic disorder characterized by muscular rigidity of central nervous system origin, particularly in the neonatal period, and by an exaggerated startle response to unexpected acoustic or tactile stimuli. Inheritance can be autosomal dominant or recessive.,function:The glycine receptor is a neurotransmitter-gated ion channel. Binding of glycine to its receptor increases the chloride conductance and thus produces hyperpolarization (inhibition of neuronal firing).,similarity:Belongs to the ligand-gated ionic channel (TC 1.A.9) family.,subunit:Pentamer composed of alpha and beta subunits. Interacts with GPHN.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Cell junction, synapse, postsynaptic cell membrane ; Multi-pass membrane protein . Cell junction, synapse . Cell projection, dendrite . Cell membrane ; Multi-pass membrane protein . Cytoplasm . Retained in the cytoplasm upon heterologous expression by itself. Coexpression with GPHN promotes expression at the cell membrane (PubMed:12684523). Coexpression with GLRA1, GLRA2 or GLRA3 promotes expression at the cell membrane. .
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