CARD9

CARD92017-01-02T10:59:29+00:00

CARD9

MOLECULAR MEDICINE

The gene on chromosome 9q34.3 that encodes caspase recruitment domain family—member 9 (OMIM: 607212, UniProtKB: Q9H257), a protein which activates NF-kappa-B by binding to BCL10 via a CARD-CARD interaction, upregulating apoptosis. CARD9 is thought to act as a molecular scaffold for assembling a BCL10 signaling complex.

It is highly expressed in spleen, less so in liver, placenta, lung, leukocytes and brain.

Molecular pathology Defects of CARD9 cause candidiasis—familial—2 (OMIM:212050). 

References http://www.genecards.org/cgi-bin/carddisp.pl?gene=CARD9 

http://www.uniprot.org/uniprot/Q9H257

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