What is the official name of the CASP10 gene?
The official name of this gene is “caspase 10, apoptosis-related cysteine peptidase.”
CASP10 is the gene's official symbol. The CASP10 gene is also known by other names, listed below.
Read more about gene names and symbols on the About page.
What is the normal function of the CASP10 gene?
- From NCBI Gene:
This gene encodes a protein which is a member of the cysteine-aspartic acid protease (caspase) family. Sequential activation of caspases plays a central role in the execution-phase of cell apoptosis. Caspases exist as inactive proenzymes which undergo proteolytic processing at conserved aspartic residues to produce two subunits, large and small, that dimerize to form the active enzyme. This protein cleaves and activates caspases 3 and 7, and the protein itself is processed by caspase 8. Mutations in this gene are associated with type IIA autoimmune lymphoproliferative syndrome, non-Hodgkin lymphoma and gastric cancer. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Apr 2011]
- From UniProt:
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 caspase-3, -4, -6, -7, -8, and -9. Hydrolyzes the small- molecule substrates, Tyr-Val-Ala-Asp-|-AMC and Asp-Glu-Val-Asp-|-AMC.Isoform C is proteolytically inactive.
How are changes in the CASP10 gene related to health conditions?
- Genetics Home Reference provides information about autoimmune lymphoproliferative syndrome, which is associated with changes in the CASP10 gene.
- UniProt provides the following information about the CASP10 gene's known or predicted involvement in human 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. The disease is caused by mutations 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. 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. The gene represented in this entry is involved in disease pathogenesis.
- NCBI Gene lists the following diseases or traits (phenotypes) known or believed to be associated with changes in the CASP10 gene.
- Autoimmune lymphoproliferative syndrome, type 2
- Malignant lymphoma, non-Hodgkin
- Neoplasm of stomach
- OMIM.org, a catalog designed for genetics professionals and researchers, provides the following information about the CASP10 gene and its association with health conditions.
Where is the CASP10 gene located?
Cytogenetic Location: 2q33-q34
Molecular Location on chromosome 2: base pairs 201,182,897 to 201,229,405
The CASP10 gene is located on the long (q) arm of chromosome 2 between positions 33 and 34.
More precisely, the CASP10 gene is located from base pair 201,182,897 to base pair 201,229,405 on chromosome 2.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about CASP10?
You and your healthcare professional may find the following resources about CASP10 helpful.
- Genetic Testing Registry - Repository of genetic test information
You may also be interested in these resources, which are designed for genetics professionals and researchers.
- OMIM - Genetic disorder catalog
- Research Resources - Tools for researchers
What other names do people use for the CASP10 gene or gene products?
Where can I find general information about genes?
The Handbook provides basic information about genetics in clear language.
These links provide additional genetics resources that may be useful.
What glossary definitions help with understanding CASP10?
The resources on this site should not be used as a substitute for
professional medical care or advice. Users seeking information about
a personal genetic disease, syndrome, or condition should consult with a qualified
See How can I find a genetics professional in my area? in the Handbook.