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Literature summary extracted from

  • Barr, M.; MacKenzie, S.M.; Friel, E.C.; Holloway, C.D.; Wilkinson, D.M.; Brain, N.J.; Ingram, M.C.; Fraser, R.; Brown, M.; Samani, N.J.; Caulfield, M.; Munroe, P.B.; Farrall, M.; Webster, J.; Clayton, D.; Dominiczak, A.F.; Connell, J.M.; Davies, E.
    Polymorphic variation in the 11beta-hydroxylase gene associates with reduced 11-hydroxylase efficiency (2006), Hypertension, 49, 113-119.
    View publication on PubMed

Cloned(Commentary)

EC Number Cloned (Comment) Organism
1.14.15.4 gene CYP11B1 variants, DNA and amino acid sequence analysis of 512 samples from hypertensive patients, genotyping, polymorphism frequency at positions 1889 and 1859, overview Homo sapiens

Protein Variants

EC Number Protein Variants Comment Organism
1.14.15.4 A1859G naturally occuring polymorphisms at positions 1889 and 1859 in hypertensive patients, overview Homo sapiens
1.14.15.4 A1889G naturally occuring polymorphisms at positions 1889 and 1859 in hypertensive patients, overview Homo sapiens

Natural Substrates/ Products (Substrates)

EC Number Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
1.14.15.4 11-deoxycortisol + reduced adrenal ferredoxin + O2 Homo sapiens
-
 cortisol + oxidized adrenal ferredoxin + H2O
-
 ?
1.14.15.4 18-hydroxycorticosterone + reduced adrenal ferredoxin + O2 Homo sapiens
-
 aldosterone + oxidized adrenal ferredoxin + H2O
-
 ?
1.14.15.4 additional information Homo sapiens variation of 344 C/T and intron 2 in the CYP11B2 gene, encoding aldosterone synthase, is associated with CYP11B1 deficiency due to variations of gene CYP11B1 at positions 1889 and 1859 and disequiliibrium with CYP11B2, overview ?
-
 ?

Organism

EC Number Organism UniProt Comment Textmining
1.14.15.4 Homo sapiens
-
 British hypertensive patients
-

Source Tissue

EC Number Source Tissue Comment Organism Textmining
1.14.15.4 adrenal gland
-
 Homo sapiens
-

Substrates and Products (Substrate)

EC Number Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
1.14.15.4 11-deoxycortisol + reduced adrenal ferredoxin + O2
-
 Homo sapiens cortisol + oxidized adrenal ferredoxin + H2O
-
 ?
1.14.15.4 18-hydroxycorticosterone + reduced adrenal ferredoxin + O2
-
 Homo sapiens aldosterone + oxidized adrenal ferredoxin + H2O
-
 ?
1.14.15.4 additional information variation of 344 C/T and intron 2 in the CYP11B2 gene, encoding aldosterone synthase, is associated with CYP11B1 deficiency due to variations of gene CYP11B1 at positions 1889 and 1859 and disequiliibrium with CYP11B2, overview Homo sapiens ?
-
 ?

Synonyms

EC Number Synonyms Comment Organism
1.14.15.4 11beta-hydroxylase
-
 Homo sapiens
1.14.15.4 Aldosterone synthase
-
 Homo sapiens
1.14.15.4 CYP11B1
-
 Homo sapiens
1.14.15.4 CYP11B2
-
 Homo sapiens

Cofactor

EC Number Cofactor Comment Organism Structure
1.14.15.4 reduced adrenal ferredoxin
-
 Homo sapiens