| Description : |
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. Alternative splicing results in multiple transcript variants. |
| Source : |
HEK293 |
| Species : |
Human |
| Tag : |
Myc/DDK |
| Molecular Mass : |
42.5 kDa |
| AA Sequence : |
MLSEVLLVSAPGKVILHGEHAVVHG KVALAVSLNLRTFLRLQPHSNGKVD LSLPNIGIKRAWDVARLQSLDTSFL EQGDVTTPTSEQVEKLKEVAGLPDD CAVTERLAVLAFLYLYLSICRKQRA LPSLDIVVWSELPPGAGLGSSAAYS VCLAAALLTVCEEIPNPLKDGDCVN RWTKEDLELINKWAFQGERMIHGNP SGVDNAVSTWGGALRYHQGKISSLK RSPALQILLTNTKVPRNTRALVAGV RNRLLKFPEIVAPLLTSIDAISLEC ERVLGEMGEAPAPEQYLVLEELIDM NQHHLNALGVGHASLDQLCQVTRAR GLHSKLTGAGGGGCGITLLKPGLEQ PEVEATKQALTSCGFDCLETSIGAP GVSIHSATSLDSRVQQALDGLTRTR PLEQKLISEEDLAANDILDYKDDDD KV |
| Purity : |
> 80% as determined by SDS-PAGE and Coomassie blue staining |
| Stability : |
Stable for 3 months from receipt of products under proper storage and handling conditions. |
| Storage : |
Store at -80 centigrade. Avoid repeated freeze-thaw cycles. |
| Concentration : |
50 μg/mL as determined by BCA |
| Storage Buffer : |
100 mM glycine, 25 mM Tris-HCl, pH 7.3. |
