Aliases for MAPT Gene
External Ids for MAPT Gene
Previous HGNC Symbols for MAPT Gene
Previous GeneCards Identifiers for MAPT Gene
This gene encodes the microtubule-associated protein tau (MAPT) whose transcript undergoes complex, regulated alternative splicing, giving rise to several mRNA species. MAPT transcripts are differentially expressed in the nervous system, depending on stage of neuronal maturation and neuron type. MAPT gene mutations have been associated with several neurodegenerative disorders such as Alzheimer's disease, Pick's disease, frontotemporal dementia, cortico-basal degeneration and progressive supranuclear palsy. [provided by RefSeq, Jul 2008]
GeneCards Summary for MAPT Gene
MAPT (Microtubule Associated Protein Tau) is a Protein Coding gene. Diseases associated with MAPT include Pick Disease and Dementia, Frontotemporal. Among its related pathways are Regulation of activated PAK-2p34 by proteasome mediated degradation and EphB-EphrinB Signaling. GO annotations related to this gene include protein kinase binding and microtubule binding. An important paralog of this gene is MAP2.
UniProtKB/Swiss-Prot for MAPT Gene
Promotes microtubule assembly and stability, and might be involved in the establishment and maintenance of neuronal polarity. The C-terminus binds axonal microtubules while the N-terminus binds neural plasma membrane components, suggesting that tau functions as a linker protein between both. Axonal polarity is predetermined by TAU/MAPT localization (in the neuronal cell) in the domain of the cell body defined by the centrosome. The short isoforms allow plasticity of the cytoskeleton whereas the longer isoforms may preferentially play a role in its stabilization.