GPHN Antibody – Mouse Monoclonal

This gene encodes a neuronal assembly protein that anchors inhibitory neurotransmitter receptors to the postsynaptic cytoskeleton via high affinity binding to a receptor subunit domain and tubulin dimers. In nonneuronal tissues, the encoded protein is also required for molybdenum cofactor biosynthesis. Mutations in this gene may be associated with the neurological condition hyperplexia and also lead to molybdenum cofactor deficiency. Numerous alternatively spliced transcript variants encoding different isoforms have been described; however, the full-length nature of all transcript variants is not currently known. [provided by RefSeq, Jul 2008]

gephyrin: Microtubule-associated protein involved in membrane protein-cytoskeleton interactions. It is thought to anchor the inhibitory glycine receptor (GLYR) to subsynaptic microtubules. 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. Homotrimer. Interacts with GABARAP. Inhibited by copper and tungsten. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: EC 2.10.1.1; Adaptor/scaffold; EC 2.7.7.75

Chromosomal Location of Human Ortholog: 14q23.3

Cellular Component: postsynaptic membrane; cytoskeleton; cytoplasm; plasma membrane; cell junction

Molecular Function: transferase activity; metal ion binding; ATP binding

Biological Process: molybdenum incorporation into molybdenum-molybdopterin complex; vitamin metabolic process; Mo-molybdopterin cofactor biosynthetic process; establishment of synaptic specificity at neuromuscular junction; molybdopterin cofactor biosynthetic process; water-soluble vitamin metabolic process

Disease: Hyperekplexia, Hereditary 1; Molybdenum Cofactor Deficiency, Complementation Group C