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MGP001989

Record overview

MGPD IDMGP001989
Gene ID4598
SpeciesHomo sapiens (Human)
Gene Namemevalonate kinase
Gene Symbol MVK
SynonymsMK; LRBP; MVLK; POROK3;
Alternate namesmevalonate kinase; LH receptor mRNA-binding protein; mevalonate kinase 1;
Chromosome12
Map Location12q24
EC Number2.7.1.36;
SummaryThis 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]
OrthologsView orthologs and multiple alignments for MVK

Proteins

mevalonate kinase isoform a
Refseq ID:NP_001107657
Protein GI:167001643
UniProt ID:Q03426
mRNA ID:NM_001114185
Length:396
RefSeq Status:
MLSEVLLVSAPGKVILHGEHAVVHGKVALAVSLNLRTFLRLQPHSNGKVDLSLPNIGIKRAWDVARLQSLDTSFLEQGDVTTPTSEQVEKLKEVAGLPDD
CAVTERLAVLAFLYLYLSICRKQRALPSLDIVVWSELPPGAGLGSSAAYSVCLAAALLTVCEEIPNPLKDGDCVNRWTKEDLELINKWAFQGERMIHGNP
SGVDNAVSTWGGALRYHQGKISSLKRSPALQILLTNTKVPRNTRALVAGVRNRLLKFPEIVAPLLTSIDAISLECERVLGEMGEAPAPEQYLVLEELIDM
NQHHLNALGVGHASLDQLCQVTRARGLHSKLTGAGGGGCGITLLKPGLEQPEVEATKQALTSCGFDCLETSIGAPGVSIHSATSLDSRVQQALDGL
 
mevalonate kinase isoform a
Refseq ID:NP_000422
Protein GI:4557769
UniProt ID:Q03426
mRNA ID:NM_000431
Length:396
RefSeq Status:
Protein sequence is identical to GI:167001643 (mRNA isoform)
 
mevalonate kinase isoform b
Refseq ID:NP_001288111
Protein GI:667751613
UniProt ID:Q03426
mRNA ID:NM_001301182
Length:344
RefSeq Status:
MLSEVLLVSAPGKVILHGEHAVVHGKVALAVSLNLRTFLRLQPHSNGKVDLSLPNIGIKRAWDVARLQSLDTSFLEQGDVTTPTSEQVEKLKEVAGLPDD
CAVTERLAVLAFLYLYLSICRKQRWTKEDLELINKWAFQGERMIHGNPSGVDNAVSTWGGALRYHQGKISSLKRSPALQILLTNTKVPRNTRALVAGVRN
RLLKFPEIVAPLLTSIDAISLECERVLGEMGEAPAPEQYLVLEELIDMNQHHLNALGVGHASLDQLCQVTRARGLHSKLTGAGGGGCGITLLKPGLEQPE
VEATKQALTSCGFDCLETSIGAPGVSIHSATSLDSRVQQALDGL
 
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