XB-GENEPAGE-989641
???displayGene.symbol???:
gphn
???displayGene.name???:
gephyrin
???displayGene.synonyms???
(
Nomenclature history )
???displayGene.geneFunction???
Molybdopterin biosynthesis protein
AI Protein Function
:
gphn encodes a scaffolding protein that clusters glycine receptors and GABA<sub>A</sub> receptors at inhibitory synapses and participates in molybdenum‑cofactor biosynthesis; the protein is cytoplasmic...[+]
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Diseases:
Disease Ontology:
hyperekplexia
MIM:
HYPEREKPLEXIA 1; HKPX1
External Links:
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