TTBK1 Chromosome 6

Tau tubulin kinase 1

1 variant 1 Health Risk

Upload your DNA to see your personal genotypes for variants in TTBK1.

What This Gene Does

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. [provided by RefSeq, Jul 2016]

Gene Info

Gene Group

Armadillo like helical domain containing

Locus Type

gene with protein product

Location

6p21.1

Ensembl

ENSG00000146216

Associated Conditions (1)

Childhood-onset schizophrenia

Key Variants

RS759748655

Likely pathogenic

Childhood-onset schizophrenia, Childhood-onset schizophrenia

Health Risk

All Variants (1)

RSID	Category	Clinical Significance	Conditions
RS759748655	Health Risk	Likely pathogenic	Childhood-onset schizophrenia, Childhood-onset schizophrenia