Gene: MAPT

Alternate names for this Gene: DDPAC|FTDP-17|MAPTL|MSTD|MTBT1|MTBT2|PPND|PPP1R103|TAU

Gene 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.

Gene is located in Chromosome: 17

Location in Chromosome : 17q21.31

Description of this Gene: microtubule associated protein tau

Type of Gene: protein-coding

Gene: MAPT-AS1

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Gene: MAPT-IT1

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rs4792891 in MAPT;MAPT-AS1;MAPT-IT1 gene and Parkinson Disease PMID 21738487 2011 Web-based genome-wide association study identifies two novel loci and a substantial genetic component for Parkinson's disease.

rs113347741 in MAPT;MAPT-AS1;MAPT-IT1 gene and Primary biliary cirrhosis PMID 22961000 2012 Dense fine-mapping study identifies new susceptibility loci for primary biliary cirrhosis.