Gene: TTBK1

Alternate names for this Gene: BDTK

Gene Summary: This gene belongs to the casein kinase 1 superfamily. The encoded protein is a neuron-specific, serine/threonine and tyrosine kinase, which regulates phosphorylation of tau, a protein that associates with microtubule assemblies and stabilizes them. Genetic variants in this gene are associated with Alzheimer's disease.

Gene is located in Chromosome: 6

Location in Chromosome : 6p21.1

Description of this Gene: tau tubulin kinase 1

Type of Gene: protein-coding

rs111342015 in TTBK1 gene and Breast Carcinoma PMID 29059683 2017 Association analysis identifies 65 new breast cancer risk loci.

rs111342015 in TTBK1 gene and Intelligence PMID 29844566 2018 Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function.

rs76187039 in TTBK1 gene and Red Blood Cell Count measurement PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs759748655 in TTBK1 gene and Schizophrenia, Childhood PMID 26508570 2016 De novo variants in sporadic cases of childhood onset schizophrenia.