This gene encodes the prototype of the membrane-associated guanylate kinase (MAGUK) family proteins. MAGUKs interact with the cytoskeleton and regulate cell proliferation, signaling pathways, and intercellular junctions. The encoded protein is an extensively palmitoylated membrane phosphoprotein containing a PDZ domain, a Src homology 3 (SH3) motif, and a guanylate kinase domain. This gene product interacts with various cytoskeletal proteins and cell junctional proteins in different tissue and cell types, and may be involved in the regulation of cell shape, hair cell development, neural patterning of the retina, and apico-basal polarity and tumor suppression pathways in non-erythroid cells. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009].
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Gosens, van Wijk, Kersten, Krieger, van der Zwaag, Märker, Letteboer, Dusseljee, Peters, Spierenburg, Punte, Wolfrum, Cremers, Kremer, Roepman: "MPP1 links the Usher protein network and the Crumbs protein complex in the retina." dans: Human molecular genetics, Vol. 16, Issue 16, pp. 1993-2003, (2007) (PubMed).