CASP10

Description

The CASP10 (caspase 10) is a protein-coding gene located on chromosome 2.

CASP10 is a gene that encodes a protein belonging to the caspase family, a group of enzymes crucial for programmed cell death (apoptosis). Activation of caspases occurs in a sequential manner, playing a central role in the execution phase of apoptosis. CASP10 exists as an inactive proenzyme that is processed into two subunits, a large and a small subunit, which then dimerize to form the active enzyme. This active CASP10 cleaves and activates other caspases, specifically CASP3 and CASP7, and is itself activated by CASP8. Mutations in the CASP10 gene are associated with defects in apoptosis, specifically in type II autoimmune lymphoproliferative syndrome. Three different isoforms of CASP10 have been identified, arising from alternative splicing of the gene.

CASP10 plays a crucial role in the execution phase of apoptosis, a process of programmed cell death. It is activated by a cascade of other caspases and is recruited to both Fas and TNFR-1 receptors, which are signaling proteins involved in apoptosis. This recruitment is dependent on FADD, another protein involved in apoptosis signaling. CASP10 may also contribute to apoptosis pathways triggered by granzyme B, a cytotoxic protein released by cytotoxic T lymphocytes. Once activated, CASP10 cleaves and activates other effector caspases, including CASP3, CASP4, CASP6, CASP7, CASP8, and CASP9, which ultimately lead to cell death. CASP10 also hydrolyzes small-molecule substrates such as Tyr-Val-Ala-Asp-|-AMC and Asp-Glu-Val-Asp-|-AMC, further contributing to its apoptotic function.

CASP10 is also known as ALPS2, FLICE-2, FLICE2, MCH4.

Associated Diseases

WES Whole Exome Sequencing

Clinical Exome Sequencing