MEFV wt Allele

Preferred Label : MEFV wt Allele;

NCIt synonyms : MEFV Innate Immunity Regulator, Pyrin wt Allele; MEF; Mediterranean Fever Gene; Familial Mediterranean Fever Gene; MEFV, Pyrin Innate Immunity Regulator Gene; FMF; TRIM20; PAAND;

NCIt definition : Human MEFV wild-type allele is located in the vicinity of 16p13.3 and is approximately 15 kb in length. This allele, which encodes pyrin protein, is involved in autophagy and inflammasome formation. Mutation of the gene is associated with familial Mediterranean fever syndrome and acute febrile neutrophilic dermatosis.;

NCI Metathesaurus CUI : CL1926462;

GenBank Accession Number : AF018080;

Details

Origin ID

C203787;

UMLS CUI

C5890854;

OMIM relation
- Mefv innate immunity regulator, pyrin [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 16p13.3 [NCIt concept]
gene_is_element_in_pathway
- Cytosolic DNA-Sensing Pathway [NCIt concept]
- NOD-Like Receptor Signaling Pathway [NCIt concept]
gene_plays_role_in_process
- Autophagy [NCIt concept]
- Immune Response Process [NCIt concept]
- Immune System Process [NCIt concept]
- Inflammatory Response [NCIt concept]

Keyword's position in hierarchy(ies) :

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