MVK (NM_001114185) Human Mass Spec Standard

Specifications

Product Data
Description	MVK MS Standard C13 and N15-labeled recombinant protein (NP_001107657)
Species	Human
Expression Host	HEK293
Expression cDNA Clone or AA Sequence	RC225616
Predicted MW	42.5 kDa
Protein Sequence	Sequence Link (showhide) >RC225616 protein sequence Red=Cloning site Green=Tags(s) MLSEVLLVSAPGKVILHGEHAVVHGKVALAVSLNLRTFLRLQPHSNGKVDLSLPNIGIKRAWDVARLQSL DTSFLEQGDVTTPTSEQVEKLKEVAGLPDDCAVTERLAVLAFLYLYLSICRKQRALPSLDIVVWSELPPG AGLGSSAAYSVCLAAALLTVCEEIPNPLKDGDCVNRWTKEDLELINKWAFQGERMIHGNPSGVDNAVSTW GGALRYHQGKISSLKRSPALQILLTNTKVPRNTRALVAGVRNRLLKFPEIVAPLLTSIDAISLECERVLG EMGEAPAPEQYLVLEELIDMNQHHLNALGVGHASLDQLCQVTRARGLHSKLTGAGGGGCGITLLKPGLEQ PEVEATKQALTSCGFDCLETSIGAPGVSIHSATSLDSRVQQALDGL TRTRPLEQKLISEEDLAANDILDYKDDDDKV
Tag	C-Myc/DDK
Purity	> 80% as determined by SDS-PAGE and Coomassie blue staining
Concentration	>0.05 µg/µL as determined by microplate BCA method
Labeling Method	Labeled with [U- 13C6, 15N4]-L-Arginine and [U- 13C6, 15N2]-L-Lysine
Buffer	25 mM Tris-HCl, 100 mM glycine, pH 7.3
Reference Data
RefSeq	NP_001107657
RefSeq Size	2075
RefSeq ORF	1188
Synonyms	LRBP; MK; MVLK; POROK3
Locus ID	4598
Cytogenetics	12q24.11
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]
Protein Families	Druggable Genome
Protein Pathways	Metabolic pathways, Terpenoid backbone biosynthesis

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