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Literature summary for 2.7.1.36 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
Search for more literature for 2.7.1.36

Cloned(Commentary)

Cloned (Comment) Organism
gene MVK, genotyping Homo sapiens

Protein Variants

Protein Variants Comment Organism
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

Metals/Ions Comment Organism Structure
Mg2+ required 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 Q03426
-
-

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

General Information

General Information Comment Organism
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