Entrez gene ID | | 10243 |
Official gene symbol | | GPHN |
Full name | | gephyrin |
Aliases | | ,GEPH,GPH,GPHRYN,KIAA1385, |
Gene summary | | 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. [provided by RefSeq] |
Location | | Chromosome: 14 Locus: 14q23.3 |
Gene position | | 66974125 - 67648525 Map Viewer |
Gene orientation | | plus |
Gene size | | 674401 bp |
Gene sequence |
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OMIM ID | | 603930 |
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