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Literature summary for 1.14.14.14 extracted from

  • Bouchoucha, N.; Samara-Boustani, D.; Pandey, A.V.; Bony-Trifunovic, H.; Hofer, G.; Aigrain, Y.; Polak, M.; Flueck, C.E.
    Characterization of a novel CYP19A1 (aromatase) R192H mutation causing virilization of a 46,XX newborn, undervirilization of the 46,XY brother, but no virilization of the mother during pregnancies (2014), Mol. Cell. Endocrinol., 390, 8-17 .
    View publication on PubMed

Protein Variants

Protein Variants Comment Organism
R192H homozygous CYP19A1 mutation identified in two siblings of consanguineous parents. Mutation causes a severe phenotype of aromatase deficiency in a 46,XX newborn and maybe hypospadias and cryptorchidism in a 46,XY, but no maternal androgen excess during pregnancy Homo sapiens

Organism

Organism UniProt Comment Textmining
Homo sapiens P11511
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-

Synonyms

Synonyms Comment Organism
CYP19A1
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Homo sapiens