Home
>
Product
>
Antibody
>
Rabbit Anti-TTBK2/FITC Conjugated antibody
background:
This gene encodes a serine-threonine kinase that putatively phosphorylates tau and tubulin proteins. Mutations in this gene cause spinocerebellar ataxia type 11 (SCA11); a neurodegenerative disease characterized by progressive ataxia and atrophy of the cerebellum and brainstem. [provided by RefSeq, Aug 2009].
Function:
Serine/threonine kinase which is able to phosphorylate tau on serines.
Subunit:
Interacts with CEP164.
DISEASE:
Defects in TTBK2 are the cause of spinocerebellar ataxia type 11 (SCA11) [MIM:604432]. Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA11 is an autosomal dominant cerebellar ataxia (ADCA). It is a relatively benign, late-onset, slowly progressive neurologic disorder.
Similarity:
Belongs to the protein kinase superfamily. CK1 Ser/Thr protein kinase family.
Contains 1 protein kinase domain.
Database links:
Entrez Gene: 19257 Human
Omim: 611695 Human
SwissProt: Q6IQ55 Human
Unigene: 646511 Human
Unigene: 727864 Human
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
|
|