NLR family pyrin domain containing 5
Annotations refreshed 1 month ago.
Diagnostic Grade (Green)
Multi locus imprinting disorders
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomalMonogenic short stature
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomalDDG2P
oocyte/zygote/embryo maturation arrest 19
alcohol drinking
inherited oocyte maturation defect
breast carcinoma
celiac disease
Rare genetic female infertility
Preimplantation lethality
urolithiasis
Toriello-Lacassie-Droste syndrome
hepatocellular carcinoma
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
NACHT, LRR and PYD domains-containing protein 5
Component of the subcortical maternal complex (SCMC), a multiprotein complex that plays a key role in early embryonic development. The SCMC complex is a structural constituent of cytoplasmic lattices, which consist in fibrous structures found in the cytoplasm of oocytes and preimplantation embryos. They are required to store maternal proteins critical for embryonic development, such as proteins that control epigenetic reprogramming of the preimplantation embryo, and prevent their degradation or activation. Required for the localization of cortical granules to the cortex of oocytes, via association with the cortical actin scaffold. Required for cortical actin clearance prior to oocyte exocytosis and prevention of polyspermy. Involved in regulating post-fertilization Ca(2+) release and endoplasmic reticulum storage (ER) storage via regulation of cellular localization. May be involved in the localization of mitochondria to the cytoplasm and perinuclear region in oocytes and early stage embryos, independent of its role in CPL formation
NLRP5 · P59047
Mean pLDDT
77.0/ 100
Confident
1,200 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0
