NLRP4 Chromosome 19

NLR family pyrin domain containing 4
1 variant 1 Health Risk

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What This Gene Does
The protein encoded by this gene is a member of the nucleotide-binding and leucine-rich repeat receptor (NLR) family, and is predicted to contain an N-terminal pyrin effector domain (PYD), a centrally-located nucleotide-binding and oligomerization domain (NACHT) and C-terminal leucine-rich repeats (LRR). This gene product has a demonstrated role as a negative regulator of autophagy and type I interferon signaling pathways as a result of protein interactions with its NACHT domain. The PYD domain has also been shown to be important in the inhibition of NF-kB (nuclear factor kappa-light-chain-enhancer of activated B cells). [provided by RefSeq, Dec 2016]
Gene Info
Gene Group
"NLR family|Pyrin domain containing"
Locus Type
gene with protein product
Location
19q13.43
Ensembl
ENSG00000160505
Key Variants
All Variants (1)
RSID Category Clinical Significance Conditions
RS145740276 Health Risk Conflicting classifications of pathogenicity
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