MEFV Gene
The MEFV gene is located on the short arm of human chromosome 16. The gene has 10 coding regions, called exons, and encodes for a 781-amino acid protein called pyrin [1] (Figure 1). MEFV is a member of a family of highly conserved genes that includes nuclear effector molecules and nucleic acid binding proteins that regulate inflammation, hematopoiesis, oncogenesis, and embryonic development [2]. Specifically, this gene was shown to be expressed in early leukocyte development and is regulated in response to inflammatory mediators [2].
Seventeen independent mutations in MEFV have been identified. The most common mutations associated with phenotype are missense mutations, in which only one amino acid is affected; however, no null mutations have been identified. Centola et al. (2000) hypothesized that since only relatively conservative amino acid substitutions can result in a disease phenotype, MEFV has an important physiologic role. [2] |
Figure 1. The MEFV gene (Cytogenetic Location: 16p13.3)
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References
[1] MEFV. Genetics Home Reference. (last reviewed Sept 2008). [2] Centola, M, Wood, G, Frucht, DM, Galon, J, Aringer, M, Farrell, C, Kingma, DW, Horwitz, ME, Mansfield, E, Holland, SM, O'Shea, JJ, Rosenberg, HF, Malech, HL, and Kastner, DL. (2000). The gene for familial Mediterranean fever, MEFV, is expressed in early leukocyte development and is regulated in response to inflammatory mediators. Blood 95(10): 3223-3231. |