CARD14
Lua error in Module:Infobox_gene at line 33: attempt to index field 'wikibase' (a nil value). Caspase recruitment domain-containing protein 14, also known as CARD-containing MAGUK protein 2 (Carma 2), is a protein that in humans is encoded by the CARD14 gene.[1][2][3]
Function
The protein encoded by this gene belongs to the membrane-associated guanylate kinase (MAGUK) family, a class of proteins that functions as molecular scaffolds for the assembly of multiprotein complexes at specialized regions of the plasma membrane. This protein is also a member of the CARD protein family, which is defined by carrying a characteristic caspase-associated recruitment domain (CARD). This protein shares a similar domain structure with CARD11 protein. The CARD domains of both proteins have been shown to specifically interact with BCL10, a protein known to function as a positive regulator of cell apoptosis and NF-κB activation. The homotypic interaction with BCL10 is believed to be prevented by the linker region of CARD14, when in an inactive state.[4] CARD14 overexpression leads to an activation of the transcription factor NF-κB and phosphorylation of BCL10. CARD14 has been shown to form a CBM signalosome, similar to the signalling of CARD11, with BCL10 and MALT1.[1][4]
Link to Psoriasis
The CARD14 gene was recently identified as the first gene directly linked to the most common form of Psoriasis. It has been suggested that a mutation in the gene plus an environmental trigger were enough to elicit plaque psoriasis.[5][6] These rare, but highly penetrant, mutations were found to disrupt an auto-inhibited state of CARD14, which leads to the binding of BCL10 and the activation of NF-κB.[4]
References
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- ↑ Jordan CT, Cao L, Roberson EDO et al.. Rare and common variants in CARD14, encoding an epidermal regulator of NF-kappaB, in psoriasis. The American Journal of Human Genetics. April 19, 2012. doi:10.1016/j.ajhg.2012.03.013.
- ↑ Jordan CT, Cao L, Roberson EDO et al.. PSORS2 is due to mutations in CARD14. The American Journal of Human Genetics. April 19, 2012. doi:10.1016/j.ajhg.2012.03.012.
Further reading
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This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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