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Literature summary for 2.7.1.153 extracted from

  • Denorme, P.; Morren, M.A.; Hollants, S.; Spaepen, M.; Suaer, K.; Zutterman, N.; Labarque, V.; Legius, E.; Brems, H.
    Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha (PIK3CA)-related overgrowth spectrum A brief report (2018), Pediatr. Dermatol., 35, e186-e188 .
    View publication on PubMed

Protein Variants

Protein Variants Comment Organism
additional information somatic gain of function PIK3CA-mutation due to a pathogenic heterozygous missense mutation in PIK3CA, phenotype, overview Homo sapiens

Metals/Ions

Metals/Ions Comment Organism Structure
Mg2+ required Homo sapiens

Organism

Organism UniProt Comment Textmining
Homo sapiens P42336 subunits PIK3CA/p110alpha
-

Synonyms

Synonyms Comment Organism
PIK3CA
-
Homo sapiens

Cofactor

Cofactor Comment Organism Structure
ATP
-
Homo sapiens

General Information

General Information Comment Organism
malfunction a patient with a somatic gain of function PIK3CA-mutation (a pathogenic heterozygous missense mutation in PIK3CA) shows extensive multisystem overgrowth, clinical diversity of the PIK3CA-related overgrowth spectrum (PROS), phenotype, overview. The patient has overlapping features of congenital lipomatous overgrowth vascular malformations epidermal nevi and skeletal abnormalities (CLOVES) syndrome and megalencephaly-capillary malformation polymicrogyria (MCAP) syndrome Homo sapiens