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Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for GPHN (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID10243
Official gene symbolGPHN
Full namegephyrin
Aliases,GEPH,GPH,GPHRYN,KIAA1385,
Gene summaryThis 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]
LocationChromosome: 14   Locus: 14q23.3
Gene position66974125 - 67648525  Map Viewer
Gene orientationplus
Gene size674401 bp
Gene sequence
OMIM ID603930