KEGG   VARIANT: 4598v1
Entry
4598v1                      Variant                                
Name
MVK deficiency
Type
Loss of function
Gene
MVK  mevalonate kinase [KO:K00869]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 251170
Network
nt06034  Cholesterol biosynthesis
Disease
H00206  Mevalonate kinase deficiency
H01933  Porokeratosis
Reference
  Authors
Prietsch V, Mayatepek E, Krastel H, Haas D, Zundel D, Waterham HR, Wanders RJ, Gibson KM, Hoffmann GF
  Title
Mevalonate kinase deficiency: enlarging the clinical and biochemical spectrum.
  Journal
Pediatrics 111:258-61 (2003)
DOI:10.1542/peds.111.2.258
Reference
  Authors
Zhang SQ, Jiang T, Li M, Zhang X, Ren YQ, Wei SC, Sun LD, Cheng H, Li Y, Yin XY, Hu ZM, Wang ZY, Liu Y, Guo BR, Tang HY, Tang XF, Ding YT, Wang JB, Li P, Wu BY, Wang W, Yuan XF, Hou JS, Ha WW, Wang WJ, Zhai YJ, Wang J, Qian FF, Zhou FS, Chen G, Zuo XB, Zheng XD, Sheng YJ, Gao JP, Liang B, Li P, Zhu J, Xiao FL, Wang PG, Cui Y, Li H, Liu SX, Gao M, Fan X, Shen SK, Zeng M, Sun GQ, Xu Y, Hu JC, He TT, Li YR, Yang HM, Wang J, Yu ZY, Zhang HF, Hu X, Yang K, Wang J, Zhao SX, Zhou YW, Liu JJ, Du WD, Zhang L, Xia K, Yang S, Wang J, Zhang XJ
  Title
Exome sequencing identifies MVK mutations in disseminated superficial actinic porokeratosis.
  Journal
Nat Genet 44:1156-60 (2012)
DOI:10.1038/ng.2409
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