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Literature summary for 1.14.15.4 extracted from

  • Peters, C.J.; Nugent, T.; Perry, L.A.; Davies, K.; Morel, Y.; Drake, W.M.; Savage, M.O.; Johnston, L.B.
    Cosegregation of a novel homozygous CYP11B1 mutation with the phenotype of non-classical congenital adrenal hyperplasia in a consanguineous family (2007), Horm. Res., 67, 189-193.
    View publication on PubMed

Cloned(Commentary)

Cloned (Comment) Organism
gene CYP11B1, DNA and aamino acid sequence determination of wild-type and mutant genes Homo sapiens

Protein Variants

Protein Variants Comment Organism
L489S naturally occuring mutation from homozygous patients, non-classical congenital adrenal hyperplasia clinical phenotype, that cosegregates, with early pubic hair development and infertility, genotyping and phenotyping of a Turkish family Homo sapiens

Natural Substrates/ Products (Substrates)

Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
additional information Homo sapiens non-classical enzyme deficiency causes mild androgen excess, hirsutism, precocious adrenarche and accelerated growth in children, missense mutations are responsible for non-classical adrenal hyperplasia in children, overview ?
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Organism

Organism UniProt Comment Textmining
Homo sapiens
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-
-

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
additional information non-classical enzyme deficiency causes mild androgen excess, hirsutism, precocious adrenarche and accelerated growth in children, missense mutations are responsible for non-classical adrenal hyperplasia in children, overview Homo sapiens ?
-
?

Synonyms

Synonyms Comment Organism
CYP11B1
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Homo sapiens