The gene GPHN (gephyrin) is mapped to human chromosome 14q23.3. The protein has a G-domain for gephyrin trimerization, a central domain which helps in interaction with various neuronal proteins and an E-domain that interacts with glycine and GABA-A (?-aminobutyric acid type-A) receptors.
Synonyms: Anti-Gephyrin
Storage: -20C
Application: All Prestige Antibodies Powered by Atlas Antibodies are developed and validated by the Human Protein Atlas (HPA) project (www.proteinatlas.org)and as a result, are supported by the most extensive characterization in the industry. The Human Protein Atlas project can be subdivided into three efforts: Human Tissue Atlas, Cancer Atlas, and Human Cell Atlas. The antibodies that have been generated in support of the Tissue and Cancer Atlas projects have been tested by immunohistochemistry against hundreds of normal and disease tissues and through the recent efforts of the Human Cell Atlas project, many have been characterized by immunofluorescence to map the human proteome not only at the tissue level but now at the subcellular level. These images and the collection of this vast data set can be viewed on the Human Protein Atlas (HPA) site by clicking on the Image Gallery link. To view these protocols and other useful information about Prestige Antibodies and the HPA, visit sigma.com/prestige.
Biochem Physiol Actions: GPHN (gephyrin) is a postsynaptic scaffolding protein at inhibitory synapses. It binds to the subunits of glycine and GABA-A (?-aminobutyric acid type-A) receptors and controls organization of these receptors. In addition, GPHN is responsible for the biosynthesis of molybdenum cofactor which is involved in cellular redox reactions. Disruption of GPHN causes epilepsy. Deletions in GPHN gene are also associated with autism, schizophrenia and seizures.
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