Symbol
| NLRP5
| contributors: mct/npt - updated : 27-11-2020
|
HGNC name
| NLR family, pyrin domain containing 5
|
HGNC id
| 21269
|
Other morbid association(s)
|
Type | Gene Modification | Chromosome rearrangement | Protein expression | Protein 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
| | | |
| 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 |