Mouse Gephyrin (GPHN) ELISA Kit | GPHN elisa kit
Mouse Gephyrin (GPHN) ELISA Kit
NCBI and Uniprot Product Information
NCBI Description
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]
Uniprot Description
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: Adaptor/scaffold; EC 2.10.1.1; EC 2.7.7.75
Chromosomal Location of Human Ortholog: 14q23.3
Cellular Component: cell junction; cytoplasm; cytoskeleton; plasma membrane; postsynaptic membrane
Molecular Function: ATP binding; metal ion binding
Biological Process: establishment of synaptic specificity at neuromuscular junction; Mo-molybdopterin cofactor biosynthetic process; molybdenum incorporation into molybdenum-molybdopterin complex; molybdopterin cofactor biosynthetic process; vitamin metabolic process; water-soluble vitamin metabolic process
Disease: Hyperekplexia, Hereditary 1; Molybdenum Cofactor Deficiency, Complementation Group C
Research Articles on GPHN
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Product Notes
The Mouse GPHN gphn (Catalog #AAA9363754) is an ELISA Kit and is intended for research purposes only. The product is available for immediate purchase. The AAA9363754 ELISA Kit recognizes Mouse GPHN. It is sometimes possible for the material contained within the vial of "Gephyrin (GPHN), ELISA Kit" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
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