Recombinant Human Gephyrin protein (ab153064)

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.

Cofactor biosynthesis; molybdopterin biosynthesis.

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.
Defects in GPHN are a cause of startle disease (STHE) [MIM:149400]; also known as hyperekplexia. 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.

In the N-terminal section; belongs to the moaB/mog family.
In the C-terminal section; belongs to the moeA family.

Cell junction > synapse. Cell junction > synapse > postsynaptic cell membrane. Cytoplasm > cytoskeleton. Cytoplasmic face of glycinergic postsynaptic membranes.