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]
| Accession: | NM_001198536 |
|---|---|
| 基因名称: | MEFV |
| 基因别名: | FMF; MEF; TRIM20 |
| 基因描述: | Homo sapiens Mediterranean fever (MEFV), transcript variant 2, mRNA. |
| 种属: | Human |
| CDS区长度: | 1338 (查看编码区序列) |
| 翻译后氨基酸长度: | 445 (查看氨基酸序列) |
| Transcript Variant: | This variant lacks an alternate in-frame exon and uses an alternate splice junction at the 5' end of an exon, that causes a frameshift. The resulting isoform (2) is shorter and has a distinct C-terminus compared to isoform 1. |
| 人 MEFV (NM_000243) cDNA克隆 | transcript variant 1 |
| 人 MEFV (NM_001198536) cDNA克隆 | transcript variant 2 |
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]