Anti-GEPH

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], Protein function: Microtubule-associated protein involved in membrane protein- cytoskeleton interactions. It is thought to anchor the inhibitory glycine receptor (GLYR) to subsynaptic microtubules. Acts as a major instructive molecule at inhibitory synapses, where it also clusters GABA type A receptors (PubMed:25025157, PubMed:26613940). [The UniProt Consortium] Recommended dilutions: WB 1:500-2000 ELISA 1:5000-20000. Cellular localization: Cell junction, synapse, postsynaptic cell membrane , Lipid-anchor , Cytoplasmic side . Cell membrane , Lipid-anchor , Cytoplasmic side . Cytoplasm, cytosol . Cytoplasm, cytoskeleton . Cell projection, dendrite . Cell junction, synapse, postsynaptic density . Cytoplasmic face of glycinergic postsynaptic membranes (By similarity). Forms clusters at synapses (PubMed:25025157). .