Gephyrin is a protein that in humans is encoded by the GPHN gene.
Gephyrin is a protein that in humans is encoded by the 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 hyperekplexia and also lead to molybdenum cofactor deficiency.
Discovered by embedding cosine similarity (sentence-transformers MiniLM, 384-dim).