Anti-Polyglutamine-Expansion Diseases Marker Antibody, clone 5TF1-1C2

Descrição detalhada : Huntington’s disease (HD) belongs to a family of polyglutamine diseases, which includes dentatorubralpallidoluysian atrophy (DRPLA), spinobulbar muscular atrophy (SBMA) and spinocerebellar ataxia (SCA) types 1–3, 6, 7 and 17. In these diseases, the non-pathogenic alleles contain fewer than approximately 35 consecutive glutamine repeats and encode a normal polyglutamine domain. In contrast, the pathogenic alleles usually contain 39 or more consecutive glutamine repeats. Higher repeat numbers lead to lower ages of onset. Patients with 40-60 glutamine repeats normally develop disease as adults, whereas patients with more than 60 repeats develop a juvenile onset disease. Each polyglutamine expansion disorder displays characteristic pathology, with neuronal loss evident in specific regions of the brain. HD results from expansions of a glutamine tract in a large cystolic protein known as huntingtin.
Sinónimos : Poly-Glu, PolyQ
Armazenamento : -20°C
Embalagem : 1X1EA