CASP10 Gene

The CASP10 gene (CASP10 stands for "caspase 10") is a protein-coding gene located on chromosome 2q33.1. Alternatively spliced transcript variants encoding different isoforms have been described for this gene.

The CASP10 gene encodes a protease belonging to the cysteine aspartic acid protease(caspase) family. The sequential activation of caspases plays a central role in the execution phase of cell apoptosis. Caspases exist as inactive proenzymes that undergo proteolytic processing on conserved aspartic acid residues to form two subunits, one large and one small, which dimerize to the active enzyme.

The cysteine protease encoded by the CASP10 gene cleaves and activates caspases 3 and 7.

Mutations in CASP10 are associated with "autoimmune lymphoproliferative syndrome type IIA". Furthermore, mutations in this gene are associated with non-Hodgkin's lymphoma as well as gastric carcinoma.

Caspases (cysteinyl aspartate proteases) are involved in the signaling pathways of apoptosis, necrosis and inflammation. These enzymes can be divided into initiators and effectors. The initiator isoforms are activated by and interact with upstream adaptor molecules.