MVK Antibody

1. The findings suggest that the MVK rs2287218 SNP is likely to increase the risk of CHD and IS by decreasing serum HDL-C levels in our study populations. PMID: 30101835
2. Case Report: homozygous missense p.Cys161Arg in MVK was identified in family members with familial Mediterranean fever. PMID: 29148404
3. Mevalonate kinase deficiency (MKD) can be associated with retinitis pigmentosa (RP) and early onset cataract. Most MKD patients developing RP carry the (p.Ala334Thr) mutation. PMID: 28095071
4. In a cohort of mevalonate kinase deficiency patients, ninety-six (84%) of the patients harbored at least 1 p.V377I mutation, 14 (12%) of which were homozygous. The second most frequent mutation was p.I268T, occurring in 29 (25%) of the patients. None of them were p.I268T homozygous. A p.C152Y mutation was found in 1 patient. PMID: 27213830
5. These findings suggest that rs11066782 in KCTD10, rs11613718 in KCTD10 and rs11067233 in MMAB may contribute to the susceptibility of coronary heart disease by altering plasma HDL-C levels in Han Chinese. PMID: 27716295
6. this study extends the mutation spectrum of MVK; MVK protein stability and correct folding might be the molecular mechanism causing disseminated superficial actinic porokeratosis PMID: 26794421
7. 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 PMID: 25982894
8. predictive analysis of mutations in MVK to predict disease severity PMID: 26420133
9. 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 PMID: 25059119
10. mutations are responsible for porokeratosis of Mibelli development in Chinese families PMID: 24781643
11. results from this 4 generation family imply a causal relationship between MVK and perokeratosis. PMID: 25053464
12. 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. PMID: 24411001
13. The testing for the Hyper IgD Syndrome was positive for the pV377I/c.1129 G>A heterozygosity in a patient with periodic fever. PMID: 24708999
14. Report a novel missense mutation in mevalonate kinase responsible for disseminated superficial actinic porokeratosis. PMID: 24551296
15. study reportstwo novel mutations of the MVK gene in Chinese patients with disseminated superficial actinic porokeratosis PMID: 24008101
16. These results suggest that hCG-induced down-regulation of LHR mRNA expression is mediated by activation of cAMP/PKA/ERK pathways to increase miR-122 expression, which then increases LRBP expression through the activation of SREBPs. PMID: 24064360
17. Results identify a novel frameshift mutation in this gene implicated in disseminated superficial actinic porokeratosis in 4 Chinese families PMID: 23834120
18. In the current article, we add another phenotype to the spectrum of diverging disorders associated with mutations in MVK. PMID: 24084495
19. Novel mutations of MVK gene in Japanese family members affected with hyperimmunoglobulinemia D and periodic fever syndrome. This is the first case in which exon skipping mutation of the MVK gene has been certainly identified at the genomic DNA level. PMID: 22159817
20. hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) patients carried 11 different MVK mutations mostly in compound heterozygosity; the most frequent mutation was p.Val377Ile; in Germany, the incidence of HIDS is very low PMID: 22038276
21. MVK has a role in regulating calcium-induced keratinocyte differentiation and could protect keratinocytes from apoptosis induced by type A ultraviolet radiation. PMID: 22983302
22. This atypical presentation of MA suggests that it should be included in the differential diagnosis of unclassified patients with psychomotor retardation, failure to thrive or ataxia, even in the absence of febrile episodes. PMID: 22271696
23. The farnesyltransferase inhibitors tipifarnib and lonafarnib inhibit cytokines secretion in a cellular model of mevalonate kinase deficiency. PMID: 21430599
24. Significant liver disease in a patient with Y116H mutation in the MVK gene. PMID: 21548022
25. data show that LH-regulated ERK1/2 signaling is required for the LRBP-mediated down-regulation of LHR mRNA PMID: 21147848
26. Results support that deleterious copy number alterations in MVK, NLRP3 and TNFRSF1A are rare or absent from the mutational spectrum of hereditary recurrent fevers. PMID: 21124859
27. Report mevalonate kinase deficiency compromized fiberoblast geranylgeranylation of RhoA and Rac1. PMID: 20814828
28. These data suggest MMAB is the most likely gene influencing high-density lipoprotein-cholesterol levels at MMAB-MVK locus. PMID: 20159775
29. A novel missense mutation in mevalonate kinase (Tyr116His) is associated with mevalonate kinase deficiency and dyserythropoietic anemia. PMID: 20194276
30. Mutations of MVK found in hyper-IgD and periodic fever syndrome patients affect the stability and/or maturation of MVK in vitro in a temperature-sensitive manner and may explain the chain of events leading to episodic inflammation and fever. PMID: 12444096
31. Isoprenoid and cholesterol biosynthesis still occurs in cells from mevalonate kinase-deficient patients. PMID: 12477733
32. Carrier frequency of 1:65 overestimates disease frequency, probably due to a reduced penetrance of V377I homozygosity. PMID: 12634869
33. The subcellular localisation of human mevalonate kinase (MK) use a variety of biochemical and microscopical techniques. PMID: 14730012
34. LH receptor mRNA-binding protein (LRBP) is a a novel trans-factor for luteinizing hormone receptor mRNA from ovary. PMID: 14749336
35. Mevalonic aciduria, with psychomotor retardation, cerebellar ataxia, recurrent fever, and death in early childhood, and hyper-immunoglobulin D syndrome, with recurrent fever attacks without neurologic symptoms, are caused by mevalonate kinase deficiency PMID: 15037710
36. Mutations in the coding region of the MVK gene were detected in 6 hyperimmunoglobulinemia D patients, and the most common mutation was V377I. PMID: 15188372
37. Several hydrophobic amino acid side chains are positioned near the polyisoprenoid chain of FSP & their functional significance has been evaluated in mutagenesis experiments with human MK, which exhibits highest reported sensitivity to feedback inhibition. PMID: 18302342
38. an intact active site of MVK is required for its binding to rat LHR mRNA and for its translational suppressor function PMID: 18494797
39. homozygosity for the mutation of the MVK gene has been reported in an Asian patient, and indicated a need for differentiation. PMID: 18941711
40. For the SNPs KCTD10_i5642G-->C and MVK_S52NG-->A, homozygotes for the major alleles (G) had lower HDL-cholesterol concentrations than did carriers of the minor alleles (P = 0.005 and P = 0.019, respectively). PMID: 19605566

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HGNC: 7530

OMIM: 175900

KEGG: hsa:4598

STRING: 9606.ENSP00000228510

UniGene: Hs.130607