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Symbol MAPT contributors: mct/pgu - updated : 26-01-2017
HGNC name microtubule-associated protein tau
HGNC id 6893
corresponding disease(s) FTDP17 , PSRP , DEL17Q21 , DUP17Q21
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
tumoral     --over  
in extraskeletal myxoid chondrosarcoma and chordoma
constitutional       loss of function
forming tangles of paired helical filaments (PHF) consisting of hyperphosphorylated tau protein in Alzheimer disease
constitutional   insertion    
inclusion of exon 6c decreases in DM1 (myotonic dystrophy 1) brains compared to control brains whereas inclusion of 6d increases
constitutional       gain of function
and KLC1 axonal transport defects can initiate neurodegeneration and/or exacerbate human tau-dependent disease pathways in AD and other neurodegenerative tauopathies
constitutional     --other  
splicing misregulation of adult-specific exon 10, which codes for a microtubule binding domain, results in expression of abnormal ratios of tau isoforms, leading to FTDP17
constitutional     --other  
loss of axonal mitochondria may play an important role in tau phosphorylation and toxicity in the pathogenesis of AD
constitutional     --over  
increased levels of neuronal MAPT are an important factor in the progression of tauopathy, and ER stress-induced increase in total MAPT protein is due to a delay in its degradation
  • to progressive supranuclear palsy and to corticobasal degeneration
  • to Parkinson disease
  • to amyotrophic lateral sclerosis-parkinsonsim/dementia complex of Guam
  • Variant & Polymorphism SNP , other
  • over-representation of the soluble four repeats tau isoforms which may need a genetic defect in tau and a mitochondrial defect either genetic or toxic leading to tau aggregation
  • SNP H1 preferentially associated with Parkinson disease and H1C with Alzheimer disease
  • SNP 14 and 21 increasing the risk of progressive supranuclear palsy and corticobasal degeneration
  • genotypes at SNP9 interact with SNP6 genotypes to increase risk of amyotrophic lateral sclerosis-parkinsonsim/dementia complex of Guam
  • H1 haplotype increased in neurodegenerative disorders such as progressive supranuclear palsy (PSP), corticobasal degeneration (CBD), frontotemporal dementia (FTD) and Parkinson's disease (PD)
  • H2 haplotype has been found to be related to familial FTD
  • ; H1 haplotype is associated with a particular cerebral morphology that may increase the susceptibility of the healthy carriers to develop neurodegenerative diseases such as sporadic tauopathies
    Candidate gene
  • salivary MAPT species could be ideal biomarkers for AD diagnosis, especially at early stages of the disease or even screening asymptomatic subjects
  • Therapy target
  • mice overexpress the 4R human tau isoform develop axonal degeneration in brain and spinal cord
  • mice expressing mutant (P301L) tau protein exhibit neurofibrillary tangles amyotrophy and progressive motor disturbance
  • double mutant (tau/APP (beta-amyloid precursor protein)) mice develop Abeta deposits and exhibit neurofibrillary tangle pathology enhanced in the limbic system and olfactory cortex
  • mice expressing a repressible human tau variant developed progressive age-related neurofibrillary tangles, neuronal loss, and behavioral impairments