靶标:
GLRA1
产品别名:
HKPX1; STHE; GLRA1; glycine receptor alpha 1; glycine receptor alpha 1; glycine receptor subunit alpha-1; glycine receptor 48 kDa subunit; glycine receptor strychnine-binding subunit; 甘氨酸受体alpha 1/2/3型; 甘氨酸受体α1+甘氨酸受体α2;
背景信息:
The protein encoded by this gene is a subunit of a pentameric inhibitory glycine receptor, which mediates postsynaptic inhibition in the central nervous system. Defects in this gene are a cause of startle disease (STHE), also known as hereditary hyperekplexia or congenital stiff-person syndrome. Multiple transcript variants encoding different isoforms have been found.