Property Summary

NCBI Gene PubMed Count 79
Grant Count 42
R01 Count 28
Funding $6,829,788.9
PubMed Score 165.73
PubTator Score 268.57

Knowledge Summary

Patent (31,791)

Expression

  Differential Expression (3)

Disease log2 FC p
malignant mesothelioma 1.400 0.000
psoriasis 1.500 0.000
osteosarcoma 2.839 0.000

Gene RIF (50)

PMID Text
26794421 this study extends the mutation spectrum of MVK; MVK protein stability and correct folding might be the molecular mechanism causing disseminated superficial actinic porokeratosis
26420133 predictive analysis of mutations in MVK to predict disease severity
25982894 Wild-type MK and the variant V261A, which is associated with HIDS, were recombinantly expressed in Escherichia coli. Enzyme activity was determined by formation of MVAP over time
25059119 study reports a novel mutation of the MVK gene in Chinese patients with disseminated superficial actinic porokeratosis (DSAP); result confirms the involvement of MVK gene in DSAP
25053464 results from this 4 generation family imply a causal relationship between MVK and perokeratosis.
24781643 mutations are responsible for porokeratosis of Mibelli development in Chinese families
24708999 The testing for the Hyper IgD Syndrome was positive for the pV377I/c.1129 G>A heterozygosity in a patient with periodic fever.
24551296 Report a novel missense mutation in mevalonate kinase responsible for disseminated superficial actinic porokeratosis.
24411001 Results suggest that the effects of MVK mutations in Behcet's disease could be an additional genetic susceptibility factor for the patients with neurological involvement.
24084495 In the current article, we add another phenotype to the spectrum of diverging disorders associated with mutations in MVK.
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AA Sequence

MLSEVLLVSAPGKVILHGEHAVVHGKVALAVSLNLRTFLRLQPHSNGKVDLSLPNIGIKRAWDVARLQSL      1 - 70
DTSFLEQGDVTTPTSEQVEKLKEVAGLPDDCAVTERLAVLAFLYLYLSICRKQRALPSLDIVVWSELPPG     71 - 140
AGLGSSAAYSVCLAAALLTVCEEIPNPLKDGDCVNRWTKEDLELINKWAFQGERMIHGNPSGVDNAVSTW    141 - 210
GGALRYHQGKISSLKRSPALQILLTNTKVPRNTRALVAGVRNRLLKFPEIVAPLLTSIDAISLECERVLG    211 - 280
EMGEAPAPEQYLVLEELIDMNQHHLNALGVGHASLDQLCQVTRARGLHSKLTGAGGGGCGITLLKPGLEQ    281 - 350
PEVEATKQALTSCGFDCLETSIGAPGVSIHSATSLDSRVQQALDGL                            351 - 396
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Text Mined References (80)

PMID Year Title
26871637 2016 Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing.
26794421 2016 Identification of three mutations in the MVK gene in six patients associated with disseminated superficial actinic porokeratosis.
26420133 2015 In Silico Prediction of the Effects of Mutations in the Human Mevalonate Kinase Gene: Towards a Predictive Framework for Mevalonate Kinase Deficiency.
25982894 2015 Quantification of mevalonate-5-phosphate using UPLC-MS/MS for determination of mevalonate kinase activity.
25059119 2014 A novel MVK missense mutation in one Chinese family with disseminated superficial actinic porokeratosis.
25053464 2014 A novel mutation for disseminated superficial actinic porokeratosis in the MVK gene.
24781643 2014 Splicing mutation in MVK is a cause of porokeratosis of Mibelli.
24708999 Periodic fevers in adult Greeks: clinical and molecular presentation.
24551296 2014 Detection of a novel missense mutation in the mevalonate kinase gene in one Chinese family with DSAP.
24411001 2014 Mevalonate kinase gene mutations and their clinical correlations in Behçet's disease.
More...