CYP11B2 wt Allele

Source:http://linkedlifedata.com/resource/umls/id/C1705588

NCI: Human CYP11B2 wild-type allele is located within 8q21-q22 and is approximately 7 kb in length. This allele, which encodes cytochrome P450 11B2, mitochondrial protein, is involved in the synthesis of aldosterone and 18-oxocortisol. Functional mutations in the CYP11B2 gene are associated with congenital hypoaldosteronism, a disorder that is due to corticosterone methyloxidase type II deficiency. CYP11B1/CYP11B2 gene fusion causes glucocorticoid-remediable aldosteronism.

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