Matches in DBpedia 2014 for { <http://dbpedia.org/resource/GPHN> ?p ?o. }
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- GPHN abstract "GPHN (sometimes GEPH) is a human gene that encodes the protein gephyrin.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 hyperekplexia 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.".
- GPHN entrezgene "10243".
- GPHN wikiPageID "14761674".
- GPHN wikiPageRevisionID "591498602".
- GPHN hasPhotoCollection GPHN.
- GPHN requireManualInspection "no".
- GPHN summaryText "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 hyperekplexia 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.".
- GPHN updateCitations "yes".
- GPHN updatePage "yes".
- GPHN updateProteinBox "yes".
- GPHN updateSummary "yes".
- GPHN type Biomolecule.
- GPHN type Protein.
- GPHN type BiologicalObject.
- GPHN comment "GPHN (sometimes GEPH) is a human gene that encodes the protein gephyrin.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.".
- GPHN label "GPHN".
- GPHN sameAs m.03gx29b.
- GPHN sameAs Q5514175.
- GPHN sameAs Q5514175.
- GPHN sameAs GEPH.
- GPHN sameAs GPHN.
- GPHN sameAs 4532.
- GPHN wasDerivedFrom GPHN?oldid=591498602.
- GPHN isPrimaryTopicOf GPHN.