The Anti-PSEN1 Antibody, Rabbit Polyclonal from MyBioSource.com is a Rabbit Polyclonal antibody. This antibody recognizes Human antigen. The Anti-PSEN1 Antibody, Rabbit Polyclonal has been shown to work in the following applications: Immunoprecipitation, and Western Blot.
Description
Presenilin 1 (PSEN1) encodes the catalytic subunit of gamma-secretase, the mutation E280A in PSEN1 is the most common cause of early-onset familial Alzheimer's Disease (fAD). It presents autosomal dominant inheritance and frequently leads to the manifestation of the disease in relatively young individuals. The familial form of Alzheimer's disease (FAD), which is caused by mutations in PSEN1 and amyloid precursor protein (APP) genes, represents less than 5% of all AD cases and has an early-onset. PSEN1 has been reported to have mutations in dilated cardiomyopathy pedigrees. Dynamic regulation and abnormal function of PSEN1 underlie the pathogenesis of cardiovascular diseases due to ultrastructural abnormality of cardiomyocytes