GEPH Polyclonal Antibody

cofactor:Magnesium.,disease: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.,disease: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.,domain:Contains 2 functional domains that are expressed as separate proteins in bacteria. The G-domain adenylates molybdopterin. The E-domain inserts molybdenum into adenylated molybdopterin.,enzyme regulation:Inhibited by copper and tungsten.,function:Microtubule-associated protein involved in membrane protein-cytoskeleton interactions. It is thought to anchor the inhibitory glycine receptor (GLYR) to subsynaptic microtubules (By similarity). Involved in molybdenum cofactor biosynthesis. Required for molybdenum transfer to molybdopterin. In a first step, copper-molybdopterin is adenylated. Subsequently, molybdate is inserted into adenylated molybdopterin and AMP is released.,pathway:Cofactor biosynthesis; molybdopterin biosynthesis.,similarity:In the C-terminal section; belongs to the moeA family.,similarity:In the N-terminal section; belongs to the moaB/mog family.,subcellular location:Cytoplasmic face of glycinergic postsynaptic membranes.,subunit:Homotrimer. Interacts with GABARAP.,