Target Protein: ATX2
Immunogen Range: 775-856/1313
Entrez Gene: 6311
Swiss Prot: Q99700
Source: KLH conjugated synthetic peptide derived from human ATX2
Purification: Purified by Protein A.
Storage Buffer: Aqueous buffered solution containing 1% BSA, 50% glycerol and 0.09% sodium azide.
Storage: Store at -20°C for 12 months..
Background: The autosomal dominant cerebellar ataxias (ADCA) are a heterogeneous group of neurodegenerative disorders characterized by progressive degeneration of the cerebellum, brain stem and spinal cord. Clinically, ADCA has been divided into three groups: ADCA types I-III. ATX2 belongs to the autosomal dominant cerebellar ataxias type I (ADCA I) which are characterized by cerebellar ataxia in combination with additional clinical features like optic atrophy, ophthalmoplegia, bulbar and extrapyramidal signs, peripheral neuropathy and dementia. ATX2 is caused by expansion of a CAG repeat in the coding region of ATX2. Longer expansions result in earlier onset of the disease. There are four named isoforms.
Predicted Molecular Weight: 101
Cross Reactive Species: Mouse
Predicted Cross Reactive Species:
For research use only. Not intended for diagnostic or therapeutic use.