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Literature summary extracted from

  • Hoffmann, F.; Lohse, P.; Stojanov, S.; Shin, Y.S.; Renner, E.D.; Kery, A.; Zellerer, S.; Belohradsky, B.H.
    Identification of a novel mevalonate kinase gene mutation in combination with the common MVK V377I substitution and the low-penetrance TNFRSF1A R92Q mutation (2005), Eur. J. Hum. Genet., 13, 510-512.
    View publication on PubMed

Cloned(Commentary)

EC Number Cloned (Comment) Organism
2.7.1.36 gene MVK, location on chromosome 12q24 Homo sapiens

Protein Variants

EC Number Protein Variants Comment Organism
2.7.1.36 S378P/V377I/R92Q naturally occuring mutation in the MVK gene, the mutation leads to reduced enzyme activity, which participates in the development of the hyperimmunoglobulinemia D and periodic fever syndrome, HIDS, an autosomal recessively inherited autoinflammatory disease, R92Q is a low-penetrance mutation, phenotype, overview Homo sapiens
2.7.1.36 V377I/R92Q naturally occuring mutation in the MVK gene, the mutation leads to reduced enzyme activity, which participates in the development of the hyperimmunoglobulinemia D and periodic fever syndrome, HIDS, an autosomal recessively inherited autoinflammatory disease, R92Q is a low-penetrance mutation, phenotype, overview Homo sapiens

Metals/Ions

EC Number Metals/Ions Comment Organism Structure
2.7.1.36 Mg2+
-
 Homo sapiens

Natural Substrates/ Products (Substrates)

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

Organism

EC Number Organism UniProt Comment Textmining
2.7.1.36 Homo sapiens
-
-
-

Source Tissue

EC Number Source Tissue Comment Organism Textmining
2.7.1.36 leukocyte
-
 Homo sapiens
-

Substrates and Products (Substrate)

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

Synonyms

EC Number Synonyms Comment Organism
2.7.1.36 MVK
-
 Homo sapiens

Cofactor

EC Number Cofactor Comment Organism Structure
2.7.1.36 ATP
-
 Homo sapiens