Gphn Gene Search Result

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3 records found for search term Gphn

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RGD ID	Symbol	Name	Description	Chr	Start	Stop	Species	Annotations	Match	Type
69477	GPHN	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 biosynthes ... (more) is. 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, Jul 2008]	14	66508147	67735355	Human	354	symbol , COSMIC , Human Proteome Map	gene, protein-coding, REVIEWED [RefSeq]
16566082	AL049779.3	gephyrin (GPHN) pseudogene					Human		name	gene, processed_pseudogene
16561701	AL049835.1	novel transcript, antisense to GPHN					Human		name	gene, lncrna