NLRP1 Chromosome 17

NLR family pyrin domain containing 1
30 variants 30 Health Risk

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What This Gene Does
This gene encodes a member of the Ced-4 family of apoptosis proteins. Ced-family members contain a caspase recruitment domain (CARD) and are known to be key mediators of programmed cell death. The encoded protein contains a distinct N-terminal pyrin-like motif, which is possibly involved in protein-protein interactions. This protein interacts strongly with caspase 2 and weakly with caspase 9. Overexpression of this gene was demonstrated to induce apoptosis in cells. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene, but the biological validity of some variants has not been determined. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"NLR family|Caspase recruitment domain containing|Pyrin domain containing"
Locus Type
gene with protein product
Location
17p13
Ensembl
ENSG00000091592
Associated Conditions (8)
NLRP1-related disorder
Inborn genetic diseases
Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome
Autoinflammation with arthritis and dyskeratosis
Vitiligo-associated multiple autoimmune disease susceptibility 1
Respiratory papillomatosis
juvenile recurrent
congenital
Key Variants
All Variants (30)
RSID Category Clinical Significance Conditions
RS115799546 Health Risk Conflicting classifications of pathogenicity NLRP1-related disorder, NLRP1-related disorder
RS11653832 Health Risk Conflicting classifications of pathogenicity
RS139685583 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS143175019 Health Risk Conflicting classifications of pathogenicity Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome, Autoinflammation with arthritis and dyskeratosis, Vitiligo-associated multiple autoimmune disease susceptibility 1
RS146505967 Health Risk Conflicting classifications of pathogenicity
RS147100948 Health Risk Conflicting classifications of pathogenicity
RS147120596 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS149535960 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS149831544 Health Risk Conflicting classifications of pathogenicity
RS201338083 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201788309 Health Risk Conflicting classifications of pathogenicity NLRP1-related disorder, Inborn genetic diseases, NLRP1-related disorder
RS201871081 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201871435 Health Risk Conflicting classifications of pathogenicity
RS202057812 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS202125502 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS202167110 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS2151803221 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS2151803259 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS532221052 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS61753138 Health Risk Conflicting classifications of pathogenicity NLRP1-related disorder, NLRP1-related disorder
RS61753139 Health Risk Conflicting classifications of pathogenicity NLRP1-related disorder, NLRP1-related disorder
RS761656607 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS769475535 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS971095282 Health Risk Conflicting classifications of pathogenicity
RS980793433 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1057519493 Health Risk Likely pathogenic Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome, Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome
RS1057519492 Health Risk Pathogenic Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome, Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome
RS1597458411 Health Risk Pathogenic Respiratory papillomatosis, juvenile recurrent, congenital
RS397514692 Health Risk Pathogenic Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome, Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome
RS1057524876 Health Risk Pathogenic/Likely pathogenic Autoinflammation with arthritis and dyskeratosis, Autoinflammation with arthritis and dyskeratosis
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