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Literature summary for 1.14.15.4 extracted from

  • Peter, M.; Janzen, N.; Sander, S.; Korsch, E.; Riepe, F.G.; Sander, J.
    A case of 11beta-hydroxylase deficiency detected in a newborn screening program by second-tier LC-MS/MS (2008), Horm. Res., 69, 253-256.
    View publication on PubMed

Cloned(Commentary)

Cloned (Comment) Organism
gene CYP11B1, DNA and amino acid sequence determination, located on chromosome 8q22 Homo sapiens

Protein Variants

Protein Variants Comment Organism
W116C a naturally occuring mutation leading to enzyme deficiency, which causes decreased cortisol secretion, elevated plasma levels of ACTH, and accumulation of steroid precursors. These are shunted into the androgen synthesis pathway, leading to hyperandrogenism. Accumulation of 11-deoxycorticosterone and its metabolites causes hypertension in about two thirds of patients. Phenotypical expression of classic 11OHD leads to virilization of external genitalia in newborn females and precocious pseudopuberty combined with rapid somatic growth and bone age acceleration, due to reactive androgen overproduction in both sexes,overview Homo sapiens

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
gene CYP11B1
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Synonyms

Synonyms Comment Organism
11beta-hydroxylase
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Homo sapiens
CYP11B1
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Homo sapiens