Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel

Caspase-10

Das CASP10-Gen kodiert eine Protease, die eine regulatorische Funktion für die Aktivierung der Apoptose besitzt. Mutationen sind für das autosomal dominante Autoimmun-lymphoproliferative Syndrom Typ 2 verantwortlich.

Gentests:

Klinisch Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5 Tage
Probentyp genomische DNS
Forschung Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Forschung Untersuchungsmethoden Multiplex ligationsabhängige Amplifikation
Bearbeitungszeit 25 Tage
Probentyp genomische DNS

Verknüpfte Erkrankungen:

Autoimmun-lymphoproliferatives Syndrom Typ 2
CASP10
Magenkarzinom
CASP10
Non-Hodgkin-Lymphom
CASP10

Referenzen:

1.

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

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2.

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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3.

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

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4.

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

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5.

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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6.

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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7.

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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8.

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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9.

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

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10.

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

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11.

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: 8. Juni 2020