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Literature summary for 2.7.1.36 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
Search for more literature for 2.7.1.36

Cloned(Commentary)

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

Protein Variants

Protein Variants Comment Organism
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
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

Metals/Ions Comment Organism Structure
Mg2+
-
 Homo sapiens

Natural Substrates/ Products (Substrates)

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

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
-
-

Source Tissue

Source Tissue Comment Organism Textmining
leukocyte
-
 Homo sapiens
-

Substrates and Products (Substrate)

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

Synonyms

Synonyms Comment Organism
MVK
-
 Homo sapiens

Cofactor

Cofactor Comment Organism Structure
ATP
-
 Homo sapiens