Human MVK Recombinant Protein (RPPB2586)
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주문- SKU:
- RPPB2586
- Product type:
- Recombinant Protein
- Size:
- 20ug
- Species:
- Human
- Target:
- MVK
- Synonyms:
- Mevalonate Kinase (Mevalonic Aciduria)
- Synonyms:
- LH Receptor MRNA-Binding Protein
- Synonyms:
- LRBP
- Synonyms:
- Mevalonate Kinase 1
- Source:
- Escherichia Coli
- Uniprot:
- Q03426
Description
| Product Name: | Human MVK Recombinant Protein |
| Product Code: | RPPB2586 |
| Size: | 20µg |
| Species: | Human |
| Target: | MVK |
| Synonyms: | Mevalonate Kinase (Mevalonic Aciduria), LH Receptor MRNA-Binding Protein, LRBP, Mevalonate Kinase 1, MK, MVLK, EC 2.7.1.36. |
| Source: | Escherichia Coli |
| Physical Appearance: | Sterile Filtered clear solution. |
| Formulation: | MVK protein (0.5mg/ml) contains 20mM Tris-HCl buffer (pH 8.0), 0.15M NaCl, 10% glycerol and 1mM DTT. |
| Stability: | Store at 4°C if entire vial will be used within 2-4 weeks. Store, frozen at -20°C for longer periods of time. For long term storage it is recommended to add a carrier protein (0.1% HSA or BSA).Avoid multiple freeze-thaw cycles. |
| Purity: | Greater than 90% as determined by SDS-PAGE. |
| Amino Acid Sequence: | MGSSHHHHHH SSGLVPRGSH MGSMLSEVLL VSAPGKVILH GEHAVVHGKV ALAVSLNLRT FLRLQPHSNG KVDLSLPNIG IKRAWDVARL QSLDTSFLEQ GDVTTPTSEQ VEKLKEVAGL PDDCAVTERL AVLAFLYLYL SICRKQRALP SLDIVVWSEL PPGAGLGSSA AYSVCLAAAL LTVCEEIPNP LKDGDCVNRW TKEDLELINK WAFQGERMIH GNPSGVDNAV STWGGALRYH QGKISSLKRS PALQILLTNT KVPRNTRALV AGVRNRLLKF PEIVAPLLTS IDAISLECER VLGEMGEAPA PEQYLVLEEL IDMNQHHLNA LGVGHASLDQ LCQVTRARGL HSKLTGAGGG GCGITLLKPG LEQPEVEATK QALTSCGFDC LETSIGAPGV SIHSATSLDS RVQQALDGL |
MVK is a member of the GHMP kinase family. Mevalonate is a vital mediator, and MVK an important early enzyme, in isoprenoid and sterol synthesis. MVK deficiency can result in gene mutation associated with Mevalonic aciduria, an illness which causes psychomotor retardation, failure to thrive hepatosplenomegaly, anemia and frequent febrile crises. Mutations in this gene also cause hyperimmunoglobulinaemia D and sporadic fever syndrome, in which the person suffers from recurrent episodes of fever related with lymphadenopathy, skin rash, gastrointestinal dismay and arthralgia.
MVK Human Recombinant produced in E.coli is a single, non-glycosylated polypeptide chain containing 419 amino acids (1-396) and having a molecular mass of 44.8kDa.The MVK is fused to a 23 amino acid His-Tag at N-terminus and purified by proprietary chromatographic techniques.
| UniProt Protein Function: | MVK: May be a regulatory site in cholesterol biosynthetic pathway. Defects in MVK are the cause of mevalonic aciduria (MEVA). It is an accumulation of mevalonic acid which causes a variety of symptoms such as psychomotor retardation, dysmorphic features, cataracts, hepatosplenomegaly, lymphadenopathy, anemia, hypotonia, myopathy, and ataxia. Defects in MVK are the cause of hyperimmunoglobulinemia D and periodic fever syndrome (HIDS). HIDS is an autosomal recessive disease characterized by recurrent episodes of unexplained high fever associated with skin rash, diarrhea, adenopathy (swollen, tender lymph nodes), athralgias and/or arthritis. Concentration of IgD, and often IgA, are above normal. Belongs to the GHMP kinase family. Mevalonate kinase subfamily. |
| UniProt Protein Details: | Protein type:Secondary Metabolites Metabolism - terpenoid backbone biosynthesis; Translation; EC 2.7.1.36; RNA-binding; Kinase, other Chromosomal Location of Human Ortholog: 12q24 Cellular Component: cytosol; peroxisome Molecular Function:ATP binding; identical protein binding; mevalonate kinase activity; protein binding Biological Process: cholesterol biosynthetic process; isopentenyl diphosphate biosynthetic process, mevalonate pathway; isoprenoid biosynthetic process; negative regulation of inflammatory response; phosphorylation Disease: Hyper-igd Syndrome; Mevalonic Aciduria; Porokeratosis 3, Disseminated Superficial Actinic Type |
| NCBI Summary: | 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. [provided by RefSeq, Jul 2014] |
| UniProt Code: | Q03426 |
| NCBI GenInfo Identifier: | 417215 |
| NCBI Gene ID: | 4598 |
| NCBI Accession: | Q03426.1 |
| UniProt Related Accession: | Q03426 |
| Molecular Weight: | 42,451 Da |
| NCBI Full Name: | Mevalonate kinase |
| NCBI Synonym Full Names: | mevalonate kinase |
| NCBI Official Symbol: | MVK |
| NCBI Official Synonym Symbols: | MK; LRBP; MVLK; POROK3 |
| NCBI Protein Information: | mevalonate kinase |
| UniProt Protein Name: | Mevalonate kinase |
| Protein Family: | Mevalonate kinase |
| UniProt Gene Name: | MVK |
| UniProt Entry Name: | KIME_HUMAN |
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