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Literature summary extracted from

  • Wang, J.; Liu, Y.; Liu, F.; Huang, C.; Han, S.; Lv, Y.; Liu, C.J.; Zhang, S.; Qin, Y.; Ling, L.; Gao, M.; Yu, S.; Li, C.; Huang, M.; Liao, S.; Hu, X.; Lu, Z.; Liu, X.; Jiang, T.; Tang, Z.; Zhang, H.; Guo, A.Y.; Liu, M.
    Loss-of-function mutation in PMVK causes autosomal dominant disseminated superficial porokeratosis (2016), Sci. Rep., 6, 24226 .
    View publication on PubMedView publication on EuropePMC

Cloned(Commentary)

EC Number Cloned (Comment) Organism
2.7.4.2 gene PMVK, DNA and amino acid sequence determination and analysis, genotyping Homo sapiens

Protein Variants

EC Number Protein Variants Comment Organism
2.7.4.2 additional information analysis of the genetic basis of disseminated superficial porokeratosis (DSP) in two five-generation Chinese families with members diagnosed with DSP, whole-exome sequencing and genotyping. Identification of a nonsense variation c.412C > T (p.Arg138*) in the phosphomevalonate kinase gene (PMVK), which encodes a cytoplasmic enzyme catalyzing the conversion of mevalonate 5-phosphate to mevalonate 5-diphosphate in the mevalonate pathway. This genetic variant is involved in the development of DSP in both families. Using HaCaT cells as models, it is revealed that this variant disturbs subcellular localization, expression, and solubility of PMVK, apparent apoptosis in and under the cornoid lamella of PMVK-deficient lesional tissues is observed, with incomplete differentiation of keratinocytes. The R138* mutant shows reduced expression and solubility. Phenotypes, overview Homo sapiens

Localization

EC Number Localization Comment Organism GeneOntology No. Textmining
2.7.4.2 cytoplasm PMVK mutant Arg138* Homo sapiens 5737
-
2.7.4.2 peroxisome wild-type PMVK Homo sapiens 5777
-

Metals/Ions

EC Number Metals/Ions Comment Organism Structure
2.7.4.2 Mg2+ required Homo sapiens

Natural Substrates/ Products (Substrates)

EC Number Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
2.7.4.2 ATP + (R)-5-phosphomevalonate Homo sapiens
-
 ADP + (R)-5-diphosphomevalonate
-
 ?

Organism

EC Number Organism UniProt Comment Textmining
2.7.4.2 Homo sapiens Q15126
-
-

Source Tissue

EC Number Source Tissue Comment Organism Textmining
2.7.4.2 epidermis
-
 Homo sapiens
-
2.7.4.2 keratinocyte
-
 Homo sapiens
-

Substrates and Products (Substrate)

EC Number Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
2.7.4.2 ATP + (R)-5-phosphomevalonate
-
 Homo sapiens ADP + (R)-5-diphosphomevalonate
-
 ?

Synonyms

EC Number Synonyms Comment Organism
2.7.4.2 PMVK
-
 Homo sapiens

General Information

EC Number General Information Comment Organism
2.7.4.2 malfunction PMVK is a gene involved in the pathogenesis of disseminated superficial porokeratosis (DSP), a rare keratinization disorder of the epidermis, which is characterized by keratotic lesions with an atrophic center encircled by a prominent peripheral ridge. PMVK deficiency or abnormal keratinocyte apoptosis can lead to porokeratosis. The Arg138* genetic variant (nonsense mutation) is involved in the development of DSP in both families. Using HaCaT cells as models, it is revealed that this variant disturbs subcellular localization, expression, and solubility of PMVK, apparent apoptosis in and under the cornoid lamella of PMVK-deficient lesional tissues is observed, with incomplete differentiation of keratinocytes Homo sapiens