KEGG VARIANT: 1585v2

VARIANT: 1585v2

Entry

1585v2                      Variant

Name

CYP11B2 deficiency

Type

Loss of function

Gene

CYP11B2 cytochrome P450 family 11 subfamily B member 2 [KO:K07433]

Organism

hsa_var Human gene variants (Homo sapiens)

Variation

mutations
OmimVar: 124080

Network

nt06019 Steroid hormone biosynthesis

Disease

H00258

Aldosterone synthase deficiency

Reference

PMID:830445

Authors

Cohen T, Theodor R, Rosler A

Title

Selective hypoaldosteronism in Iranian Jews: An autosomal recessive trait.

Journal

Clin Genet 11:25-30 (1977)
DOI:10.1111/j.1399-0004.1977.tb01273.x

Reference

PMID:8439335

Authors

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

Title

Congenitally defective aldosterone biosynthesis in humans: inactivation of the P-450C18 gene (CYP11B2) due to nucleotide deletion in CMO I deficient patients.

Journal

Biochem Biophys Res Commun 190:864-9 (1993)
DOI:10.1006/bbrc.1993.1128

LinkDB

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