VPS13A (Vacuolar protein sorting 13 homolog A, S. cerevisiae) encodes a 360kDa protein referred to as chorein. It is a member of VPS13 protein family and located on chromosome 9q21. It consists of two splicing variants. It is highly expressed in wide range of tissues such as testis, kidney, spleen and brain. In neurons, it is distributed in microsomal and synaptosomal fractions, the neuronal perinuclear region, cytoplasm, and fibers.
Synonyms: Anti-Chorea-acanthocytosis protein; Anti-Chorein; Anti-Vacuolar protein sorting-associated protein 13A
Storage: -20C
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Biochem Physiol Actions: VPS13A (Vacuolar protein sorting 13 homolog A, S. cerevisiae) is involved in the molecular trafficking to the cytoskeleton and intracellular space. VPS13A performs an important role in the regulation of actin reorganization, apoptosis, and cell morphology. It controls PI3K, Rac1, and PAK1 signaling pathways. It directly interacts with the phosphoinositide-3-kinase (PI3K), which mediates the phosphorylation of the PI3K subunit p85 followed by PI3K, Rac1 and PAK1 activation. Further, the activated PI3K and PAK1 initiate actin polymerization and rearrange microfilaments. Mutation in VPS13A causes the chorea-acanthocytosis syndrome in humans.
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