Caspase-10
The CASP10 gene encodes a proease that is involved in signal transduction to initiate apoptosis.Mutations cause autosomal dominant autoimmune lymphoproliferative syndrome type 2.
Genetests:
Related Diseases:
References:
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Lek M et al. (2016) Analysis of protein-coding genetic variation in 60,706 humans.
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Fernandes-Alnemri T et al. (1996) In vitro activation of CPP32 and Mch3 by Mch4, a novel human apoptotic cysteine protease containing two FADD-like domains.
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Vincenz C et al. (1997) Fas-associated death domain protein interleukin-1beta-converting enzyme 2 (FLICE2), an ICE/Ced-3 homologue, is proximally involved in CD95- and p55-mediated death signaling.
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Wang J et al. (1999) Inherited human Caspase 10 mutations underlie defective lymphocyte and dendritic cell apoptosis in autoimmune lymphoproliferative syndrome type II.
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Grønbaek K et al. (2000) The V410I (G1228A) variant of the caspase-10 gene is a common polymorphism of the Danish population.
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Hadano S et al. (2001) Cloning and characterization of three novel genes, ALS2CR1, ALS2CR2, and ALS2CR3, in the juvenile amyotrophic lateral sclerosis (ALS2) critical region at chromosome 2q33-q34: candidate genes for ALS2.
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Wang J et al. (2001) Caspase-10 is an initiator caspase in death receptor signaling.
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Park WS et al. (2002) Inactivating mutations of the caspase-10 gene in gastric cancer.
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Shin MS et al. (2002) Inactivating mutations of CASP10 gene in non-Hodgkin lymphomas.
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Zhu S et al. (2006) Genetic alterations in caspase-10 may be causative or protective in autoimmune lymphoproliferative syndrome.
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Lee HJ et al. (2007) AK2 activates a novel apoptotic pathway through formation of a complex with FADD and caspase-10.
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Update: Aug. 14, 2020