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FLASH GENE
Symbol NLRP5 contributors: mct/npt - updated : 27-11-2020
HGNC name NLR family, pyrin domain containing 5
HGNC id 21269
ASSOCIATED DISORDERS
corresponding disease(s)
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
constitutional germinal mutation      
associated with reproductive wastage and multilocus imprinting disorders
Susceptibility to early embryonic arrest
Variant & Polymorphism other
  • biallelic NLRP5 variant that associates with early embryonic arrest 2)
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • in mouse, lack of Nlrp5 in oocytes triggers premature activation of the mitochondrial pool, causing mitochondrial damage that cannot be rescued by inactivation of Bax