Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Moldiag Diseases Genes Support Contact

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:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Autoimmune lymphoproliferative syndrome type 2
CASP10
Gastric cancer
CASP10
Non-Hodgkin lymphoma
CASP10

References:

1.

Lek M et al. (2016) Analysis of protein-coding genetic variation in 60,706 humans.

external link
2.

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.

external link
3.

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.

external link
4.

Wang J et al. (1999) Inherited human Caspase 10 mutations underlie defective lymphocyte and dendritic cell apoptosis in autoimmune lymphoproliferative syndrome type II.

external link
5.

Grønbaek K et al. (2000) The V410I (G1228A) variant of the caspase-10 gene is a common polymorphism of the Danish population.

external link
6.

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.

external link
7.

Wang J et al. (2001) Caspase-10 is an initiator caspase in death receptor signaling.

external link
8.

Park WS et al. (2002) Inactivating mutations of the caspase-10 gene in gastric cancer.

external link
9.

Shin MS et al. (2002) Inactivating mutations of CASP10 gene in non-Hodgkin lymphomas.

external link
10.

Zhu S et al. (2006) Genetic alterations in caspase-10 may be causative or protective in autoimmune lymphoproliferative syndrome.

external link
11.

Lee HJ et al. (2007) AK2 activates a novel apoptotic pathway through formation of a complex with FADD and caspase-10.

external link
Update: Aug. 14, 2020
Copyright © 2005-2020 by Center for Nephrology and Metabolic Disorders, Dr. Mato Nagel, MD
Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Germany, Tel.: +49-3576-287922, Fax: +49-3576-287944
Sitemap | Webmail | Disclaimer | Privacy Issues