KEGG   VARIANT: 1585v1
Entry
1585v1                      Variant                                
Name
CYP11B1-CYP11B2 fusion
Gene
CYP11B2  cytochrome P450 family 11 subfamily B member 2 [KO:K07433]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
chimeric CYP11B1/CYP11B2 gene
Network
nt06310  CRH-ACTH-cortisol signaling
Disease
H00602  Glucocorticoid-remediable aldosteronism (GRA)
Reference
  Authors
McMahon GT, Dluhy RG
  Title
Glucocorticoid-remediable aldosteronism.
  Journal
Cardiol Rev 12:44-8 (2004)
DOI:10.1097/01.crd.0000096417.42861.ce
Reference
PMID:1731223
  Authors
Lifton RP, Dluhy RG, Powers M, Rich GM, Cook S, Ulick S, Lalouel JM
  Title
A chimaeric 11 beta-hydroxylase/aldosterone synthase gene causes glucocorticoid-remediable aldosteronism and human hypertension.
  Journal
Nature 355:262-5 (1992)
DOI:10.1038/355262a0
Reference
  Authors
Vaidya A, Hamrahian AH, Auchus RJ
  Title
Genetics of primary aldosteronism.
  Journal
Endocr Pract 21:400-5 (2015)
DOI:10.4158/EP14512.RA
Reference
  Authors
Ferrari P, Bianchetti M, Frey FJ
  Title
Juvenile hypertension, the role of genetically altered steroid metabolism.
  Journal
Horm Res 55:213-23 (2001)
DOI:10.1159/000049999
LinkDB

DBGET integrated database retrieval system