产品说明
一般描述
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)
免疫原
MVK (NP_000422.1, 1 a.a. ~ 396 a.a) full-length human protein.
Sequence
MLSEVLLVSAPGKVILHGEHAVVHGKVALAVSLNLRTFLRLQPHSNGKVDLSLPNIGIKRAWDVARLQSLDTSFLEQGDVTTPTSEQVEKLKEVAGLPDDCAVTERLAVLAFLYLYLSICRKQRALPSLDIVVWSELPPGAGLGSSAAYSVCLAAALLTVCEEIPNPLKDGDCVNRWTKEDLELINKWAFQGERMIHGNPSGVDNAVSTWGGALRYHQGKISSLKRSPALQILLTNTKVPRNTRALVAGVRNRLLKFPEIVAPLLTSIDAISLECERVLGEMGEAPAPEQYLVLEELIDMNQHHLNALGVGHASLDQLCQVTRARGLHSKLTGAGGGGCGITLLKPGLEQPEVEATKQALTSCGFDCLETSIGAPGVSIHSATSLDSRVQQALDGL
外形
Solution in phosphate buffered saline, pH 7.4
基本信息
| NACRES | NA.41 |
产品性质
| 生物来源 | rabbit |
| 质量水平 | 100 |
| 偶联物 | unconjugated |
| 抗体形式 | purified immunoglobulin |
| antibody product type | primary antibodies |
| 克隆 | polyclonal |
| 形式 | buffered aqueous solution |
| species reactivity | human |
| technique(s) | western blot: 1 μg/mL |
| NCBI登记号 | NM_000431.1 |
| UniProt登记号 | Q03426 |
| 运输 | dry ice |
| 储存温度 | −20℃ |
| Gene Information | human ... MVK(4598) |
安全信息
| 储存分类代码 | 12 - Non Combustible Liquids |
| 闪点(F) | Not applicable |
| 闪点(C) | Not applicable |
Sigma-Aldrich
m.cnreagent.com
