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Literature summary for 1.14.15.4 extracted from

  • Nimkarn, S.; New, M.I.
    Steroid 11beta-hydroxylase deficiency congenital adrenal hyperplasia (2008), Trends Endocrinol. Metab., 19, 96-99.
    View publication on PubMed

Protein Variants

Protein Variants Comment Organism
additional information congenital adrenal hyperplasia due to steroid 11beta-hydroxylase deficiency is a genetic disorder of steroidogenesis, transmitted as an autosomal recessive trait. It is associated with low renin hypertension, hypokalemia, hyperandrogenemia and genital ambiguity in affected females, phenotype including female pseudohermaphroditism and partially with hypertension, diagnostic steroid pattern of 11beta-hydroxylase deficiency, overview Homo sapiens

Natural Substrates/ Products (Substrates)

Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
corticosterone + reduced adrenal ferredoxin + O2 Homo sapiens
-
11-deoxycorticosterone + adrenal ferredoxin + ?
-
?
cortisol + reduced adrenal ferredoxin + O2 Homo sapiens in the adrenal zona fasciculata 11-deoxycortisol + adrenal ferredoxin + ?
-
?
additional information Homo sapiens congenital adrenal hyperplasia due to steroid 11beta-hydroxylase deficiency is a genetic disorder of steroidogenesis, transmitted as an autosomal recessive trait. It is associated with low renin hypertension, hypokalemia, hyperandrogenemia and genital ambiguity in affected females, overview ?
-
?

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
-
-

Source Tissue

Source Tissue Comment Organism Textmining
adrenal gland zona fasciculata in the adrenal cortex Homo sapiens
-

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
corticosterone + reduced adrenal ferredoxin + O2
-
Homo sapiens 11-deoxycorticosterone + adrenal ferredoxin + ?
-
?
cortisol + reduced adrenal ferredoxin + O2
-
Homo sapiens 11-deoxycortisol + adrenal ferredoxin + ?
-
?
cortisol + reduced adrenal ferredoxin + O2 in the adrenal zona fasciculata Homo sapiens 11-deoxycortisol + adrenal ferredoxin + ?
-
?
additional information congenital adrenal hyperplasia due to steroid 11beta-hydroxylase deficiency is a genetic disorder of steroidogenesis, transmitted as an autosomal recessive trait. It is associated with low renin hypertension, hypokalemia, hyperandrogenemia and genital ambiguity in affected females, overview Homo sapiens ?
-
?

Synonyms

Synonyms Comment Organism
steroid 11beta-hydroxylase
-
Homo sapiens

Cofactor

Cofactor Comment Organism Structure
reduced adrenal ferredoxin
-
Homo sapiens