Microtubule-associated protein involved in membrane protein-cytoskeleton interactions. It is thought to anchor the inhibitory glycine receptor (GLYR) to subsynaptic microtubules.
产品应用
应用
已检合格种属
预测种属
推荐稀释比例
WB
Human
Mouse, Rat
1:500-2000
交叉反应
交叉反应: Human (predicted: Mouse, Rat)
相关产品
暂无相关产品
靶标
基因名
GPHN
蛋白名
Gephyrin
亚基
Homotrimer. Interacts with GABARAP (By similarity).
亚细胞定位
Cell junction, synapse (By similarity). Cell junction, synapse, postsynaptic cell membrane; Peripheral membrane protein; Cytoplasmic side (By similarity). Cytoplasm, cytoskeleton (By similarity). Note=Cytoplasmic face of glycinergic postsynaptic membranes (By similarity).
疾病
Defects in GPHN are the cause of molybdenum cofactor deficiency type C (MOCOD type C) [MIM:252150]. MOCOD type C is an autosomal recessive disease which leads to the pleiotropic loss of all molybdoenzyme activities and is characterized by severe neurological damage, neonatal seizures and early childhood death.
相似性
In the N-terminal section; belongs to the moaB/mog family. In the C-terminal section; belongs to the moeA family.
功能
Microtubule-associated protein involved in membrane protein-cytoskeleton interactions. It is thought to anchor the inhibitory glycine receptor (GLYR) to subsynaptic microtubules (By similarity). Catalyzes two steps in the biosynthesis of the molybdenum cofactor. In the first step, molybdopterin is adenylated. Subsequently, molybdate is inserted into adenylated molybdopterin and AMP is released.