Gene: NLRP11

Alternate names for this Gene: CLR19.6|NALP11|NOD17|PAN10|PYPAF6|PYPAF7

Gene Summary: This gene is a member of the the NOD-like receptor protein (NLRP) gene family and encodes a protein with an N-terminal pyrin death (PYD) domain and nucleoside triphosphate hydrolase (NACHT) domain and a C-terminal leucine-rich repeats (LRR) region. This gene has been shown to regulate caspases in the proinflammatory signal transduction pathway and, based on studies of other members of the NLRP gene family with similar domain structure, is predicted to form part of the multiprotein inflammasome complex. Alternative splicing produces multiple transcript variants encoding distince isoforms.

Gene is located in Chromosome: 19

Location in Chromosome : 19q13.42-q13.43

Description of this Gene: NLR family pyrin domain containing 11

Type of Gene: protein-coding

rs12461110 in NLRP11 gene and Age at menopause PMID 26414677 2015 Large-scale genomic analyses link reproductive aging to hypothalamic signaling, breast cancer susceptibility and BRCA1-mediated DNA repair.

PMID 23307926 2013 A genome-wide association study of early menopause and the combined impact of identified variants.

PMID 22267201 2012 Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways.

PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs12461110 in NLRP11 gene and Birth Weight PMID 31043758 2019 Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors.