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: KANSL1

Alternate names for this Gene: CENP-36|KDVS|KIAA1267|MSL1v1|NSL1|hMSL1v1

Gene Summary: This gene encodes a nuclear protein that is a subunit of two protein complexes involved with histone acetylation, the MLL1 complex and the NSL1 complex. The corresponding protein in Drosophila interacts with K(lysine) acetyltransferase 8, which is also a subunit of both the MLL1 and NSL1 complexes.

Gene is located in Chromosome: 17

Location in Chromosome : 17q21.31

Description of this Gene: KAT8 regulatory NSL complex subunit 1

Type of Gene: protein-coding

rs2158257 in MAPT;KANSL1 gene and Corpuscular Hemoglobin Concentration Mean PMID 23222517 2012 Seventy-five genetic loci influencing the human red blood cell.

rs2158257 in MAPT;KANSL1 gene and Primary biliary cirrhosis PMID 22961000 2012 Dense fine-mapping study identifies new susceptibility loci for primary biliary cirrhosis.