VARIANT: 1584v1
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Entry
1584v1 Variant
Name
CYP11B1 deficiency
Type
Loss of function
Gene
CYP11B1
cytochrome P450 family 11 subfamily B member 1 [KO:
K00497
]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar:
610613
Network
nt06019
Steroid hormone biosynthesis
Disease
H00216
Congenital adrenal hyperplasia
Reference
PMID:
2022736
Authors
White PC, Dupont J, New MI, Leiberman E, Hochberg Z, Rosler A
Title
A mutation in CYP11B1 (Arg-448----His) associated with steroid 11 beta-hydroxylase deficiency in Jews of Moroccan origin.
Journal
J Clin Invest 87:1664-7 (1991)
DOI:
10.1172/JCI115182
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