caspase recruitment domain family member 14
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L CARD14 gene provides instructions for making a protein that turns on (activates) a group of interacting proteins known as nuclear factor-kappa-B (NF-κB). The NF-κB protein complex regulates the activity of multiple genes, including genes that control the body's immune responses and inflammatory reactions. Inflammation is a normal immune system response to injury and foreign invaders (such as bacteria). The NF-κB protein complex also protects cells from certain signals that would otherwise cause them to self-destruct (undergo apoptosis).
Normal function
L CARD14 gene provides instructions for making a protein that turns on (activates) a group of interacting proteins known as nuclear factor-kappa-B (NF-κB). The NF-κB protein complex regulates the activity of multiple genes, including genes that control the body's immune responses and inflammatory reactions. Inflammation is a normal immune system response to injury and foreign invaders (such as bacteria). The NF-κB protein complex also protects cells from certain signals that would otherwise cause them to self-destruct (undergo apoptosis).
The CARD14 protein is found in many of the body's tissues, but it is particularly abundant in the skin. NF-κB signaling appears to play important roles in regulating inflammatory reactions in the skin and in promoting the survival of skin cells.
Conditions referring to this gene or chromosome
Altri nomi
bcl10-interacting maguk protein 2
BIMP2
CAR14_HUMAN
CARD-containing MAGUK protein 2
card-maguk protein 2
carma 2
CARMA2
caspase recruitment domain family, member 14
caspase recruitment domain-containing protein 14
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Ulteriori letture e riferimenti
- caspase recruitment domain family member 14; MedlinePlus, National Library of Medicine.
- Berki DM, Liu L, Choon SE, David Burden A, Griffiths CEM, Navarini AA, Tan ES, Irvine AD, Ranki A, Ogo T, Petrof G, Mahil SK, Duckworth M, Allen MH, Vito P, Trembath RC, McGrath J, Smith CH, Capon F, Barker JN. Activating CARD14 Mutations Are Associated with Generalized Pustular Psoriasis but Rarely Account for Familial Recurrence in Psoriasis Vulgaris. J Invest Dermatol. 2015 Dec;135(12):2964-2970. doi: 10.1038/jid.2015.288. Epub 2015 Jul 23.
- Bertin J, Wang L, Guo Y, Jacobson MD, Poyet JL, Srinivasula SM, Merriam S, DiStefano PS, Alnemri ES. 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. J Biol Chem. 2001 Apr 13;276(15):11877-82. doi: 10.1074/jbc.M010512200. Epub 2001 Jan 12.
- Fuchs-Telem D, Sarig O, van Steensel MA, Isakov O, Israeli S, Nousbeck J, Richard K, Winnepenninckx V, Vernooij M, Shomron N, Uitto J, Fleckman P, Richard G, Sprecher E. Familial pityriasis rubra pilaris is caused by mutations in CARD14. Am J Hum Genet. 2012 Jul 13;91(1):163-70. doi: 10.1016/j.ajhg.2012.05.010. Epub 2012 Jun 14.
- Howes A, O'Sullivan PA, Breyer F, Ghose A, Cao L, Krappmann D, Bowcock AM, Ley SC. Psoriasis mutations disrupt CARD14 autoinhibition promoting BCL10-MALT1-dependent NF-kappaB activation. Biochem J. 2016 Jun 15;473(12):1759-68. doi: 10.1042/BCJ20160270. Epub 2016 Apr 12.
- Jordan CT, Cao L, Roberson ED, Duan S, Helms CA, Nair RP, Duffin KC, Stuart PE, Goldgar D, Hayashi G, Olfson EH, Feng BJ, Pullinger CR, Kane JP, Wise CA, Goldbach-Mansky R, Lowes MA, Peddle L, Chandran V, Liao W, Rahman P, Krueger GG, Gladman D, Elder JT, Menter A, Bowcock AM. Rare and common variants in CARD14, encoding an epidermal regulator of NF-kappaB, in psoriasis. Am J Hum Genet. 2012 May 4;90(5):796-808. doi: 10.1016/j.ajhg.2012.03.013. Epub 2012 Apr 19.
- Jordan CT, Cao L, Roberson ED, Pierson KC, Yang CF, Joyce CE, Ryan C, Duan S, Helms CA, Liu Y, Chen Y, McBride AA, Hwu WL, Wu JY, Chen YT, Menter A, Goldbach-Mansky R, Lowes MA, Bowcock AM. PSORS2 is due to mutations in CARD14. Am J Hum Genet. 2012 May 4;90(5):784-95. doi: 10.1016/j.ajhg.2012.03.012. Epub 2012 Apr 19.
- Scudiero I, Zotti T, Ferravante A, Vessichelli M, Vito P, Stilo R. Alternative splicing of CARMA2/CARD14 transcripts generates protein variants with differential effect on NF-kappaB activation and endoplasmic reticulum stress-induced cell death. J Cell Physiol. 2011 Dec;226(12):3121-31. doi: 10.1002/jcp.22667.
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