- accession:NM_000431
- 基因别名:MVK
- 基因描述:Homo sapiens mevalonate kinase (MVK), transcript variant 1, mRNA.
- 载体: 现货载体
- CDS区长度:1191
- 翻译后氨基酸长度:396
- TranscriptVariant:This variant (1) represents the longer transcript. Both variants 1 and 2 encode the same protein.
- 基因简介:This gene encodes the peroxisomal enzyme mevalonate kinase. Mevalonate is a key intermediate, and mevalonate kinase a key early enzyme, in isoprenoid and sterol synthesis. Mevalonate kinase deficiency caused by mutation of this gene results in mevalonic aciduria, a disease characterized psychomotor retardation, failure to thrive, hepatosplenomegaly, anemia and recurrent febrile crises. Defects in this gene also cause hyperimmunoglobulinaemia D and periodic fever syndrome, a disorder characterized by recurrent episodes of fever associated with lymphadenopathy, arthralgia, gastrointestinal dismay and skin rash. Two transcript variants that encode the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
- 载体信息:自有图片地址
- 规格:10ul 质粒
CDS区参考序列: 点击查看序列翻译后氨基酸参数序列: 点击查看序列