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 Palmitoylated Protein 5) is a Protein Coding gene. Diseases associated with MPP5 include Leber Congenital Amaurosis 8 and Amyotrophic Lateral Sclerosis 9. Among its related pathways are PI3K-Akt signaling pathway and Hippo signaling pathway. Gene Ontology (GO) annotations related to this gene include protein domain specific binding. An important paralog of this gene is MPP7.
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).