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MEFV Mediterranean fever [Homo sapiens (human)]


RefSeq Accession Definition Services Price Order
NM_000243 Homo sapiens Mediterranean fever (MEFV), transcript variant 1, mRNA. ORF Sequence $680.34
Peptide Services
Antibody Services
Protein Services
NM_001198536 Homo sapiens Mediterranean fever (MEFV), transcript variant 2, mRNA. ORF Sequence $388.02
Peptide Services
Antibody Services
Protein Services


Gene Symbol MEFV
Entrez Gene ID 4210
Full Name Mediterranean fever
Synonyms FMF, MEF, MGC126560, MGC126586, TRIM20
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

16

16p13.3

Summary This gene encodes a protein, also known as pyrin or marenostrin, that is an important modulator of innate immunity. Mutations in this gene are associated with Mediterranean fever, a hereditary periodic fever syndrome. [provided by RefSeq, Jul 2008].
Disorder

MIM: 608107

Familial Mediterranean fever, AR, 249100 (3); Familial

mRNA Protein Product Sequence Price Select
NM_000243, 188219545 NP_000234, 4557743 pyrin isoform 1 Full Length $1227.45
ORF Sequence $680.34
NM_001198536, 309384275 NP_001185465, 309384276 pyrin isoform 2 Full Length $1067.15
ORF Sequence $388.02
KEGG
hsa04621NOD-like receptor signaling pathway
WikiPathways
WP1433NOD pathway
Reactome
REACT_75808The NLRP3 inflammasome
REACT_75913Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathways
REACT_6900Immune System
REACT_75900Inflammasomes
REACT_6802Innate Immune System
Homo sapiens (human)MEFVNP_000234.1
Pan troglodytes (chimpanzee)MEFVXP_523280.3
Macaca mulatta (Rhesus monkey)MEFVXP_001092338.1
Canis lupus familiaris (dog)MEFVXP_547161.3
Bos taurus (cattle)MEFVXP_002697924.2
Mus musculus (house mouse)MefvNP_062326.2
Rattus norvegicus (Norway rat)MefvNP_113822.1
GeneCards MEFV
PDB 2WL1
UniProt O15553, D2DTW2
MIM 608107
Ensembl ENSG00000103313
HGNC 6998
HPRD 02012

GeneRIFs: Gene References Into Functions What's a GeneRIF?

General protein information

Preferred Names
pyrin
Names
pyrin
marenostrin

Interactant

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