Huntingtin (UniProt: P42858; also known as Huntington disease protein, HD protein) is encoded by the HTT (also known as HD, IT15) gene (Gene ID: 3064) in human. The protein is found in the perinuclear region along with microtubules, and in the centrosomal region along with gamma-tubulin. It is expressed in the brain and is mainly found in the cerebellar cortex, the neocortex, the striatum, and the hippocampal formation. Huntingtin is necessary for neuronal survival and is involved in synaptic vesicle trafficking, microtubule binding and may also have a role in apoptosis. It plays a role in microtubule-mediated transport and vesicle function. Huntingtin protein contains a nuclear export signal (aa 2395-2404) and 5 HEAT (Huntington, Elongation Factor 3, PR65/A, TOR) domains. Huntingtin protein is cleaved by apopain downstream of the polyglutamine stretch and the resulting N-terminal fragment is cytotoxic and provokes apoptosis. Phosphorylation at Serine 1179 and 1199 by CDK5 in response to DNA damage in nuclei of neurons protects neurons against polyglutamine expansion as well as DNA damage mediated toxicity. Mutations in HTT gene cause Huntington disease that is characterized by involuntary movements (chorea), general motor impairment, psychiatric disorders and dementia. Wild-type huntingtin and anti-huntingtin antibody reduces aggregation and cellular toxicity of the mutant huntingtin form in mammalian cell models of Huntington disease.
Synonyms: Huntington disease protein, HD protein
Application: Western Blotting Analysis: 2 µg/mL from a representative lot detected Huntingtin in mouse brain tissue lysate.
Other Notes: Concentration: Please refer to lot specific datasheet.