Any feedback?
Please rate this page
(literature.php)
(0/150)

BRENDA support

Literature summary extracted from

  • Glinos, G.; Pastar, I.; Giubellino, A.; Tomic-Canic, M.; Miteva, M.; Stone, R.
    Novel mevalonate kinase missense mutation in a patient with disseminated superficial actinic porokeratosis (2018), JAAD Case Rep., 4, 340-343 .
    View publication on PubMedView publication on EuropePMC

Cloned(Commentary)

EC Number Cloned (Comment) Organism
2.7.1.36 gene MVK, genotyping Homo sapiens

Protein Variants

EC Number Protein Variants Comment Organism
2.7.1.36 C152Y identification of a mevalonate kinase heterozygous missense point mutation in exon 5 (c.455:G[A]), resulting in the substitution of tyrosine for cysteine (p.C152Y) in a predicted functional domain of the MVK enzyme. The patient shows disseminated superficial actinic porokeratosis (DSAP), which is a genodermatosis with autosomal dominant inheritance and near-complete penetrance clinically featuring uniform 3- to 7-mm annular lesions with scaly borders on sun-exposed face and extremities. The hyperkeratotic rim correlates histopathologically with the presence of a cornoid lamella. Phenotype, overview Homo sapiens

Metals/Ions

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

Natural Substrates/ Products (Substrates)

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

Organism

EC Number Organism UniProt Comment Textmining
2.7.1.36 Homo sapiens Q03426
-
-

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

General Information

EC Number General Information Comment Organism
2.7.1.36 malfunction a mevalonate kinase heterozygous missense mutation C152Y in a patient with disseminated superficial actinic porokeratosis is detected. Disseminated superficial actinic porokeratosis (DSAP) is a genodermatosis with autosomal dominant inheritance and near-complete penetrance clinically featuring uniform 3- to 7-mm annular lesions with scaly borders on sun-exposed face and extremities. The hyperkeratotic rim correlates histopathologically with the presence of a cornoid lamella Homo sapiens