epitope mapping near the C-terminus of VPS13A of human origin
recommended for detection of VPS13A of mouse, rat and human origin by WB, IF and ELISA; also reactive with additional species, including canine and bovine
VPS13A Background Information Vacuolar sorting proteins (VPSs) are required for proper trafficking of endocytic and biosynthetic proteins to the vacuole and play an important role in the budding process of cells. VPS13A (vacuolar protein sorting 13 homolog A), also known as CHOC or CHOREIN, is a 3,174 amino acid protein that belongs to the VPS family and contains ten TPR repeats. Expressed in a variety of tissues, including brain, kidney, heart and skeletal muscle, VPS13A is thought to play a role in the regulation of protein cycling from the golgi network to endosomes, lysosomes and the plasma membrane. Defects in the gene encoding VPS13A are the cause of chorea-acanthocytosis (CHAC), an autosomal recessive disorder characterized by epilepsy, peripheral neuropathy, myopathy and oral self-mutilation. Multiple isoforms of VPS13A exist due to alternative splicing events.
