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CASP8 caspase 8

Gene ID: 841, updated on 11-Apr-2024
Gene type: protein coding
Also known as: CAP4; MACH; MCH5; FLICE; ALPS2B; Casp-8

Summary

This gene encodes 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 composed of a prodomain, a large protease subunit, and a small protease subunit. Activation of caspases requires proteolytic processing at conserved internal aspartic residues to generate a heterodimeric enzyme consisting of the large and small subunits. This protein is involved in the programmed cell death induced by Fas and various apoptotic stimuli. The N-terminal FADD-like death effector domain of this protein suggests that it may interact with Fas-interacting protein FADD. This protein was detected in the insoluble fraction of the affected brain region from Huntington disease patients but not in those from normal controls, which implicated the role in neurodegenerative diseases. Many alternatively spliced transcript variants encoding different isoforms have been described, although not all variants have had their full-length sequences determined. [provided by RefSeq, Jul 2008]

Associated conditions

See all available tests in GTR for this gene

DescriptionTests
Autoimmune lymphoproliferative syndrome type 2B
MedGen: C1846545OMIM: 607271GeneReviews: Not available
See labs
Familial cancer of breastSee labs
Genetics of rheumatoid arthritis contributes to biology and drug discovery.
GeneReviews: Not available
Genome-wide association study identifies multiple risk loci for chronic lymphocytic leukemia.
GeneReviews: Not available
Genome-wide association study identifies three new melanoma susceptibility loci.
GeneReviews: Not available
Hepatocellular carcinoma
MedGen: C2239176OMIM: 114550GeneReviews: Not available
See labs
Joint analysis of three genome-wide association studies of esophageal squamous cell carcinoma in Chinese populations.
GeneReviews: Not available
Lung cancer
MedGen: C0242379OMIM: 211980GeneReviews: Not available
See labs

Genomic context

Location:
2q33.1
Sequence:
Chromosome: 2; NC_000002.12 (201233463..201287711)
Total number of exons:
16

Links

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