External Ids for GPHN Gene
Previous GeneCards Identifiers for GPHN Gene
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]
GeneCards Summary for GPHN Gene
GPHN (Gephyrin) is a Protein Coding gene. Diseases associated with GPHN include gphn-related hyperekplexia and sulfite oxidase deficiency due to molybdenum cofactor deficiency type c. Among its related pathways are Metabolism and Neuroscience. GO annotations related to this gene include transferase activity and molybdopterin molybdotransferase activity.
UniProtKB/Swiss-Prot for GPHN Gene
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.