Gene: STH

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

Location in Chromosome :

Description of this Gene:

Type of Gene:

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

rs1078268 in STH;MAPT gene and Corpuscular Hemoglobin Concentration Mean PMID 23222517 2012 Seventy-five genetic loci influencing the human red blood cell.

rs2471738 in STH;MAPT gene and Intelligence PMID 29942086 2018 Genome-wide association meta-analysis in 269,867 individuals identifies new genetic and functional links to intelligence.

PMID 29844566 2018 Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function.

rs1078268 in STH;MAPT gene and Parkinson Disease PMID 22438815 2012 Comprehensive research synopsis and systematic meta-analyses in Parkinson's disease genetics: The PDGene database.

rs1078268 in STH;MAPT gene and Primary biliary cirrhosis PMID 22961000 2012 Dense fine-mapping study identifies new susceptibility loci for primary biliary cirrhosis.