TTBK1
Description
The TTBK1 (tau tubulin kinase 1) is a protein-coding gene located on chromosome 6.
TTBK1 is a gene that encodes the Tau tubulin kinase 1 protein in humans.
TTBK1 is a serine/threonine kinase that phosphorylates tau protein on serine, threonine, and tyrosine residues. This phosphorylation activity is believed to contribute to the aggregation of tau protein.
TTBK1 is also known as BDTK.
Associated Diseases
- spondyloepimetaphyseal dysplasia with joint laxity
- benign adult familial myoclonic epilepsy
- atypical pantothenate kinase-associated neurodegeneration
- parkinsonism with polyneuropathy
- dystonia 12
- X-linked intellectual disability-psychosis-macroorchidism syndrome
- Parkinson disease
- Huntington disease-like syndrome due to C9ORF72 expansions
