Gene Symbol | MAPT |
Entrez Gene ID | 4137 |
Full Name | microtubule associated protein tau |
Synonyms | DDPAC,FTDP-17,MAPTL,MSTD,MTBT1,MTBT2,PPND,PPP1R103,TAU |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Dementia, frontotemporal, with or without parkinsonism, 600274 (3); Pick disease, 172700 (3); Supranuclear palsy, progressive, 601104 (3); Supranuclear palsy, progressive atypical, 260540 (3); {Parkinson disease, susceptibility to}, 168600 (3) |