CASP10

Function

Involved in the activation cascade of caspases responsible for apoptosis execution. Recruited to both Fas- and TNFR-1 receptors in a FADD dependent manner. May participate in the granzyme B apoptotic pathways. Cleaves and activates effector caspases CASP3, CASP4, CASP6, CASP7, CASP8 and CASP9. Hydrolyzes the small- molecule substrates, Tyr-Val-Ala-Asp-|-AMC and Asp-Glu-Val-Asp-|-AMC.

Isoform 7 can enhance NF-kappaB activity but promotes only slight apoptosis.

Isoform C is proteolytically inactive.

Involvement in disease

Autoimmune lymphoproliferative syndrome 2A

ALPS2A

A disorder of apoptosis that manifests in early childhood and results in the accumulation of autoreactive lymphocytes. It is characterized by non-malignant lymphadenopathy with hepatosplenomegaly, and autoimmune hemolytic anemia, thrombocytopenia and neutropenia.

None

The disease is caused by variants affecting the gene represented in this entry.

Familial non-Hodgkin lymphoma

NHL

Cancer that starts in cells of the lymph system, which is part of the body's immune system. NHLs can occur at any age and are often marked by enlarged lymph nodes, fever and weight loss.

None

The gene represented in this entry is involved in disease pathogenesis.

Gastric cancer

GASC

A malignant disease which starts in the stomach, can spread to the esophagus or the small intestine, and can extend through the stomach wall to nearby lymph nodes and organs. It also can metastasize to other parts of the body. The term gastric cancer or gastric carcinoma refers to adenocarcinoma of the stomach that accounts for most of all gastric malignant tumors. Two main histologic types are recognized, diffuse type and intestinal type carcinomas. Diffuse tumors are poorly differentiated infiltrating lesions, resulting in thickening of the stomach. In contrast, intestinal tumors are usually exophytic, often ulcerating, and associated with intestinal metaplasia of the stomach, most often observed in sporadic disease.

None

The gene represented in this entry is involved in disease pathogenesis.

Post-translational modifications

Cleavage by granzyme B and autocatalytic activity generate the two active subunits.

Sequence Similarities

Belongs to the peptidase C14A family.

Tissue Specificity

Detectable in most tissues. Lowest expression is seen in brain, kidney, prostate, testis and colon.

Alternative names

MCH4, CASP10, Caspase-10, CASP-10, Apoptotic protease Mch-4, FAS-associated death domain protein interleukin-1B-converting enzyme 2, ICE-like apoptotic protease 4, FLICE2

Database links

swissprot:Q92851 swissprot:Q8IUP5 entrezGene:843 omim:601762