Gene Symbol | DLG3 |
Entrez Gene ID | 1741 |
Full Name | discs large MAGUK scaffold protein 3 |
Synonyms | MRX,MRX90,NEDLG,PPP1R82,SAP102,XLMR |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes a member of the membrane-associated guanylate kinase protein family. The encoded protein may play a role in clustering of NMDA receptors at excitatory synapses. It may also negatively regulate cell proliferation through interaction with the C-terminal region of the adenomatosis polyposis coli tumor suppressor protein. Mutations in this gene have been associated with X-linked cognitive disability. Alternatively spliced transcript variants have been described. [provided by RefSeq, Oct 2009]. |
Disorder MIM: | |
Disorder Html: | Mental retardation, X-linked 90, 300850 (3) |