NACHT, LRR and PYD domains-containing protein 1
The NLRP1 gene encodes a protein that is involved in apoptosis. Mutations cause autosomal dominant multiple self-healing palmoplantar carcinomata, recessive and dominant autoinflammation with arthritis and dyskeratosis, and susceptibility to vitiligo-associated multiple autoimmune disease 1.
Genetests:
Related Diseases:
References:
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Guarda G et al. (2009) T cells dampen innate immune responses through inhibition of NLRP1 and NLRP3 inflammasomes.
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Nagase T et al. (1999) Prediction of the coding sequences of unidentified human genes. XIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.
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Hlaing T et al. (2001) Molecular cloning and characterization of DEFCAP-L and -S, two isoforms of a novel member of the mammalian Ced-4 family of apoptosis proteins.
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Martinon F et al. (2001) The pyrin domain: a possible member of the death domain-fold family implicated in apoptosis and inflammation.
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Hamatani T et al. (2004) Age-associated alteration of gene expression patterns in mouse oocytes.
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Girard C et al. () Vitamin a deficiency phrynoderma associated with chronic giardiasis.
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Faustin B et al. (2007) Reconstituted NALP1 inflammasome reveals two-step mechanism of caspase-1 activation.
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Jin Y et. al. (2007) NALP1 in vitiligo-associated multiple autoimmune disease.
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Gregory SM et al. (2011) Discovery of a viral NLR homolog that inhibits the inflammasome.
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Vasseur E et al. (2012) The evolutionary landscape of cytosolic microbial sensors in humans.
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Masters SL et al. (2012) NLRP1 inflammasome activation induces pyroptosis of hematopoietic progenitor cells.
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Soler VJ et. al. (2013) Whole exome sequencing identifies a mutation for a novel form of corneal intraepithelial dyskeratosis.
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Mama et. al. (2015) Multiple self-healing palmoplantar carcinoma: a familial predisposition to skin cancer with primary palmoplantar and conjunctival lesions.
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Zhong FL et. al. (2016) Germline NLRP1 Mutations Cause Skin Inflammatory and Cancer Susceptibility Syndromes via Inflammasome Activation.
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Grandemange S et al. (2017) A new autoinflammatory and autoimmune syndrome associated with NLRP1 mutations: NAIAD (associated autoinflammation with arthritis and dyskeratosis).
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Update: Aug. 14, 2020