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- Table of Contents
Facts about Gephyrin.
Catalyzes two steps in the biosynthesis of the molybdenum cofactor. In the first step, molybdopterin is adenylated.
Human | |
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Gene Name: | GPHN |
Uniprot: | Q9NQX3 |
Entrez: | 10243 |
Belongs to: |
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No superfamily |
GEPH; Gephyrin; GPH; GPHN; GPHRYN; KIAA1385GPHGEPH
Mass (kDA):
79.748 kDA
Human | |
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Location: | 14q23.3-q24.1 |
Sequence: | 14; NC_000014.9 (66507934..67181805) |
Cell junction, synapse. Cell junction, synapse, postsynaptic cell membrane; Peripheral membrane protein; Cytoplasmic side. Cytoplasm, cytoskeleton. Cell membrane; Peripheral membrane protein; Cytoplasmic side. Cell projection, dendrite. Cell junction, synapse, postsynaptic density. Cytoplasmic face of glycinergic postsynaptic membranes.
PMID: 10839351 by Butler M.H., et al. Autoimmunity to gephyrin in Stiff-Man syndrome.
PMID: 11095995 by Reiss J., et al. A mutation in the gene for the neurotransmitter receptor-clustering protein gephyrin causes a novel form of molybdenum cofactor deficiency.