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

caspase recruitment domain-containing protein 9

The protein encoded by this gene is a member of the CARD protein family, which is defined by the presence of a characteristic caspase-associated recruitment domain (CARD). CARD is a protein interaction domain known to participate in activation or suppression of CARD containing members of the caspase family, and thus plays an important regulatory role in cell apoptosis. This protein was identified by its selective association with the CARD domain of BCL10, a postive regulator of apoptosis and NF-kappaB activation, and is thought to function as a molecular scaffold for the assembly of a BCL10 signaling complex that activates NF-kappaB. Several alternatively spliced transcript variants have been observed, but their full-length nature is not clearly defined. [provided by RefSeq, Jul 2008]

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:

Familial candidiasis 2
CARD9

References:

1.

Gross O et al. (2006) Card9 controls a non-TLR signalling pathway for innate anti-fungal immunity.

external link
2.

Glocker EO et al. (2009) A homozygous CARD9 mutation in a family with susceptibility to fungal infections.

external link
3.

Bertin J et al. (2001) CARD11 and CARD14 are novel caspase recruitment domain (CARD)/membrane-associated guanylate kinase (MAGUK) family members that interact with BCL10 and activate NF-kappa B.

external link
4.

Boudghène-Stambouli O et al. (1998) [Dermatophytic disease: exuberant hyperkeratosis with cutaneous horns].

external link
5.

Bertin J et al. (2000) CARD9 is a novel caspase recruitment domain-containing protein that interacts with BCL10/CLAP and activates NF-kappa B.

external link
6.

Hsu YM et al. (2007) The adaptor protein CARD9 is required for innate immune responses to intracellular pathogens.

external link
7.

Yang H et al. (2007) pVHL acts as an adaptor to promote the inhibitory phosphorylation of the NF-kappaB agonist Card9 by CK2.

external link
8.

Drewniak A et al. (2013) Invasive fungal infection and impaired neutrophil killing in human CARD9 deficiency.

external link
9.

Lanternier F et al. (2013) Deep dermatophytosis and inherited CARD9 deficiency.

external link
10.

Cao Z et. al. (2015) Ubiquitin Ligase TRIM62 Regulates CARD9-Mediated Anti-fungal Immunity and Intestinal Inflammation.

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