Anti-Ataxin-7 Antibody, clone 3SCA-1C1

Descrição detalhada : Ataxin-7 is a protein of unknown function. However, since this protein contains a nuclear localization sequence and is found to be localized in the nucleus, it has been postulated to be a potential transcription factor. Spinocerebellar ataxia-7 (one of a group of hereditary neurodegenrative diseases) is caused by an expanded CAG repeat in the gene encoding ataxin-7 (the diseased allele associated with Spinocerebellar ataxia-7, contains 38-130 CAG repeats (near the N-terminus), compared to 7-17 in the normal allele). In cells where there is a mutation of the SCA7 gene, ataxin-7 accumulates in intranuclear inclusions and can result in cell death. Spinocerebellar ataxia (SCA) is one of a group of genetic disorders characterized by slowly progressive incoordination of gait and often associated with poor coordination of hands, speech, and eye movements. Frequently, atrophy of the cerebellum occurs.
Sinónimos : ADCAII, OPCA3, SCA7
Armazenamento : -20°C
Embalagem : 1X1EA