Aliases for MPP5 Gene
External Ids for MPP5 Gene
Previous GeneCards Identifiers for MPP5 Gene
This gene encodes a member of the p55-like subfamily of the membrane-associated guanylate kinase (MAGUK) gene superfamily. The encoded protein participates in the polarization of differentiating cells, has been shown to regulate myelinating Schwann cells (PMID: 20237282), and is one of the components of the Crumbs complex in the retina. Mice which express lower levels of the orthologous protein have retinal degeneration and impaired vision (PMID: 22114289). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2012]
GeneCards Summary for MPP5 Gene
MPP5 (Membrane Protein, Palmitoylated 5 (MAGUK P55 Subfamily Member 5)) is a Protein Coding gene. Diseases associated with MPP5 include amyotrophic lateral sclerosis 7 and amyotrophic lateral sclerosis 9. Among its related pathways are Hippo signaling pathway and Cell junction organization. GO annotations related to this gene include protein domain specific binding. An important paralog of this gene is MPP6.
UniProtKB/Swiss-Prot for MPP5 Gene
May play a role in tight junctions biogenesis and in the establishment of cell polarity in epithelial cells. May modulate SC6A1/GAT1-mediated GABA uptake by stabilizing the transporter. Required for localization of EZR to the apical membrane of parietal cells and may play a role in the dynamic remodeling of the apical cytoskeleton (By similarity).