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.
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.
Detection of Gephyrin in Immunoprecipitates of 293T whole cell lysates (1 mg for IP, 20% of IP loaded) using ab185993 at 6 µg/mg lysate for IP (Lane 1). For WB detection, ab185993 was used at 1µg/ml. Lane 2 represents control IgG IP.
Detection: Chemiluminescence with an exposure time of 10 seconds.
Western blot - Anti-Gephyrin antibody (ab185993)
All lanes : Anti-Gephyrin antibody (ab185993) at 0.1 µg/ml
Lane 1 : HeLa cell lysate Lane 2 : 293T cell lysate Lane 3 : Jurkat cell lysate