Glycine receptors are ligand-gated chloride channels. Channel opening is triggered by extracellular glycine (PubMed:15302677, PubMed:16144831, PubMed:2155780, PubMed:23895467, PubMed:25445488, PubMed:26370147, PubMed:34473954). Channel opening is also triggered by taurine and beta-alanine (PubMed:15302677). Plays a role in synaptic plasticity (By similarity). Contributes to the generation of inhibitory postsynaptic currents, and is involved in the down-regulation of neuronal excitability (PubMed:25445488). Plays a role in cellular responses to ethanol (PubMed:23895467).
Intellectual developmental disorder, X-linked, syndromic, Pilorge type
MRXSP
A disorder characterized by global developmental delay with variably impaired intellectual development, speech delay, and behavioral abnormalities. Variable features include motor incoordination, seizures, and ocular abnormalities. Disease onset is in infancy, and severity is higly variable.
None
The disease is caused by variants affecting the gene represented in this entry.
Belongs to the ligand-gated ion channel (TC 1.A.9) family. Glycine receptor (TC 1.A.9.3) subfamily. GLRA2 sub-subfamily.
Glycine receptor subunit alpha-2, GLRA2
Proteins
Neuroscience
52002Da
We found 1 product in 1 category