Gephyrin is 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.
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Protein Aliases: Domain E; Domain G; Gephyrin; Molybdopterin adenylyltransferase; Molybdopterin molybdenumtransferase; MPT adenylyltransferase; MPT Mo-transferase
Gene Aliases: GEPH; GPH; GPHN; GPHRYN; HKPX1; KIAA1385; MOCODC
UniProt ID: (Human) Q9NQX3
Entrez Gene ID: (Human) 10243