NLRP3 wt Allele

Preferred Label : NLRP3 wt Allele;

NCIt synonyms : NLR Family, Pyrin Domain Containing 3 wt Allele; FCAS; Cold Autoinflammatory Syndrome 1 Gene; C1orf7; CLR1.1; FLJ95925; AII/AVP; AGTAVPR; FCU; Cryopyrin Gene; MWS; PYPAF1; NALP3; Nucleotide-Binding Oligomerization Domain, Leucine Rich Repeat and Pyrin Domain Containing 3 Gene; AII; CIAS1; AVP;

NCIt definition : Human NLRP3 wild-type allele is located in the vicinity of 1q44 and is approximately 33 kb in length. This allele, which encodes NACHT, LRR and PYD domains-containing protein 3, is involved in the regulation of both apoptosis and inflammation. Mutation of the gene is associated with familial cold autoinflammatory syndrome, Muckle-Wells syndrome, and chronic infantile neurological cutaneous and articular syndrome.;

NCIt note : The NLRP3 gene may play a role in the modulation of immune responses incuced by adjuvants.;

GenBank Accession Number : AF054176;

Details

Origin ID

C77203;

UMLS CUI

C2698414;

False automatic mappings
- Familial cold urticaria [ORDO Disease]
- Milliwatt (qualifier value) [SNOMED CT concept]
OMIM relation
- Nlr family, pyrin domain-containing 3 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 1q44 [NCIt concept]
gene_plays_role_in_process
- Apoptosis [NCIt concept]
- Inflammatory Response [NCIt concept]
- Positive Regulation of Apoptosis [NCIt concept]

Keyword's position in hierarchy(ies) :

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