Defective CYP11B2 causes Corticosterone methyloxidase 1 deficiency (CMO-1 deficiency)

Stable Identifier
R-HSA-5579009
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Pathway
Species
Homo sapiens
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Cytochrome P450 11B2, mitochondrial (CYP11B2 aka aldosterone hydroxylase) is an enzyme necessary for aldosterone biosynthesis via corticosterone (CORST) and 18-hydroxycorticosterone (18HCORST). Defects in CYP11B2 results in disorders of aldosterone synthesis. Corticosterone methyloxidase 1 and 2 deficiencies (CMO-1; MIM:203400 and CMO-2 deficiency; MIM:61060) are autosomal recessive disorders of aldosterone biosynthesis (Mitsuuchi et al. 1993, Bureik et al. 2002). In CMO-1 deficiency, aldosterone is undetectable in plasma, while its immediate precursor, 18HCORST, is low or normal. In CMO-2 deficiency, aldosterone can be low or normal, but at the expense of increased secretion of 18HCORST. Patients with CMO-2 deficiency have elevated plasma 18-hydroxycorticosterone/aldosterone ratios.

Literature References
PubMed ID Title Journal Year
8439335 Congenitally defective aldosterone biosynthesis in humans: inactivation of the P-450C18 gene (CYP11B2) due to nucleotide deletion in CMO I deficient patients

Mitsuuchi, Y, Kawamoto, T, Miyahara, K, Ulick, S, Morton, DH, Naiki, Y, Kuribayashi, I, Toda, K, Hara, T, Orii, T

Biochem. Biophys. Res. Commun. 1993
12452430 The human steroid hydroxylases CYP1B1 and CYP11B2

Bureik, M, Lisurek, M, Bernhardt, R

Biol. Chem. 2002
Participants
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Disease
Name Identifier Synonyms
steroid inherited metabolic disorder 1701
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