NLRP12 wt Allele

Preferred Label : NLRP12 wt Allele;

NCIt synonyms : MONARCH1; RNO; NLR Family, Pyrin Domain-Containing 12 Gene; CLR19.3; NALP12; NLR Family Pyrin Domain Containing 12 wt Allele; PAN6; RNO2; Monarch 1 Gene; FCAS2; Monarch1 Gene; NACHT, Leucine Rich Repeat and PYD Containing 12 Gene; Nucleotide-Binding Oligomerization Domain, Leucine Rich Repeat and Pyrin Domain Containing 12 Gene; PYPAF7;

NCIt definition : Human NLRP12 wild-type allele is located in the vicinity of 19q13.42 and is approximately 31 kb in length. This allele, which encodes NACHT, LRR and PYD domains-containing protein 12, is involved in the modulation of inflammation. Mutation of the gene is associated with familial cold autoinflammatory syndrome type 2.;

NCI Metathesaurus CUI : CL1926286;

GenBank Accession Number : AY095146;

Détails

Origin ID

C203979;

UMLS CUI

C5890872;

OMIM relation
- Nlr family, pyrin domain-containing 12 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 19q13.42 [NCIt concept]
gene_is_element_in_pathway
- NOD-Like Receptor Signaling Pathway [NCIt concept]
gene_plays_role_in_process
- Caspase Activation [NCIt concept]
- Inflammatory Response [NCIt concept]
- Receptor Signaling [NCIt concept]
- Signal Transduction [NCIt concept]

Position du mot-clé dans l'(les) arborescence(s) :

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