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Literature summary for 1.14.15.4 extracted from

  • Riedl, S.; Nguyen, H.H.; Clausmeyer, S.; Schulze, E.; Waldhauser, F.; Bernhardt, R.
    A homozygous L299P mutation in the CYP11B1 gene leads to complete virilization in 46,XX individuals with 11-beta-hydroxylase deficiency (2008), Horm. Res., 70, 145-149.
    View publication on PubMed
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Cloned(Commentary)

Cloned (Comment) Organism
gene CYP11B1, DNA and amino acid sequence determination and analysis, genotyping Homo sapiens

Protein Variants

Protein Variants Comment Organism
L299P naturally occuring mutation in a consanguineous Turkish family, phenotype with complete external virilization, borderline elevated blood pressure, and genital alterations, overview Homo sapiens

Natural Substrates/ Products (Substrates)

Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
additional information Homo sapiens 11-beta-hydroxylase deficiency, i.e. 11betaOHD is caused by CYP11B1 gene defects and leads to congenital adrenal hyperplasia associated with hypertension, overview ?
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 ?

Organism

Organism UniProt Comment Textmining
Homo sapiens
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 gene CYP11B1, a consanguineous Turkish family
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Source Tissue

Source Tissue Comment Organism Textmining
adrenal gland
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 Homo sapiens
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Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
additional information 11-beta-hydroxylase deficiency, i.e. 11betaOHD is caused by CYP11B1 gene defects and leads to congenital adrenal hyperplasia associated with hypertension, overview Homo sapiens ?
-
 ?

Synonyms

Synonyms Comment Organism
11-beta-hydroxylase
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 Homo sapiens