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Literature summary for 1.14.15.4 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)

Cloned (Comment) Organism
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

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

Natural Substrates/ Products (Substrates)

Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
11-deoxycortisol + reduced adrenal ferredoxin + O2 Homo sapiens
-
cortisol + oxidized adrenal ferredoxin + H2O
-
?
18-hydroxycorticosterone + reduced adrenal ferredoxin + O2 Homo sapiens
-
aldosterone + oxidized adrenal ferredoxin + H2O
-
?
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

Organism UniProt Comment Textmining
Homo sapiens
-
British hypertensive patients
-

Source Tissue

Source Tissue Comment Organism Textmining
adrenal gland
-
Homo sapiens
-

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
11-deoxycortisol + reduced adrenal ferredoxin + O2
-
Homo sapiens cortisol + oxidized adrenal ferredoxin + H2O
-
?
18-hydroxycorticosterone + reduced adrenal ferredoxin + O2
-
Homo sapiens aldosterone + oxidized adrenal ferredoxin + H2O
-
?
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

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

Cofactor

Cofactor Comment Organism Structure
reduced adrenal ferredoxin
-
Homo sapiens