Gene: MAPT-IT1

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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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rs11575895 in MAPT-IT1;MAPT;MAPT-AS1 gene and Primary biliary cirrhosis PMID 22961000 2012 Dense fine-mapping study identifies new susceptibility loci for primary biliary cirrhosis.