NLRP7
Function
Inhibits CASP1/caspase-1-dependent IL1B secretion.
Involvement in disease
Hydatidiform mole, recurrent, 1
HYDM1
A disorder characterized by excessive trophoblast development that produces a growing mass of tissue inside the uterus at the beginning of a pregnancy. It leads to abnormal pregnancies with no embryo, and cystic degeneration of the chorionic villi.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the NLRP family.
Tissue Specificity
Expressed in numerous tissues including uterus and ovary, with low levels in heart and brain. Not detected in skeletal muscle.
Alternative names
NALP7, NOD12, PYPAF3, NLRP7, Nucleotide-binding oligomerization domain protein 12, PYRIN-containing APAF1-like protein 3