|Other Names||Gephyrin, Molybdopterin adenylyltransferase, MPT adenylyltransferase, Domain G, Molybdopterin molybdenumtransferase, MPT Mo-transferase, Domain E, GPHN, GPH, KIAA1385|
|Format||Synthetic peptide was lyophilized with 100% acetonitrile and is supplied as a powder. Reconstitute with 0.1 ml DI water for a final concentration of 1 mg/ml.|
|Storage||Maintain refrigerated at 2-8°C for up to 6 months. For long term storage store at -20°C.|
|Precautions||This product is for research use only. Not for use in diagnostic or therapeutic procedures.|
|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). 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.|
|Cellular Location||Cell junction, synapse. Cell junction, synapse, postsynaptic cell membrane; Peripheral membrane protein; Cytoplasmic side. Cytoplasm, cytoskeleton Note=Cytoplasmic face of glycinergic postsynaptic membranes|
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GPHN 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.
Tabakoff, B., et al. BMC Biol. 7, 70 (2009) Fritschy, J.M., et al. Trends Neurosci. 31(5):257-264(2008)Inada, T., et al. Pharmacogenet. Genomics 18(4):317-323(2008)Sugiyama, N., et al. Mol. Cell Proteomics 6(6):1103-1109(2007)Ehrensperger, M.V., et al. Biophys. J. 92(10):3706-3718(2007)Olsen, J.V., et al. Cell 127(3):635-648(2006)
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