Recombinant Human Gephyrin (GPHN)

Uniprot Id

Q9NQX3

Target Species

Human

Target Name

GPHN

Target Full Name

Gephyrin

Target 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.; Has also a catalytic activity and 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.

Target Involvement

Molybdenum cofactor deficiency, complementation group C (MOCODC)

Target Subcellular Location

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.

Target Protein Families

MoaB/Mog family; MoeA family

Target Synonyms

Domain E; Domain G; GEPH; GEPH_HUMAN; GPH; GPHN; GPHRYN; KIAA1385; Molybdopterin molybdenumtransferase; MPT adenylyltransferase; MPT Mo-transferase

Target Background

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.