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FLASH GENE
Symbol CYP11B2 contributors: mct - updated : 06-04-2013
HGNC name cytochrome P450, family 11, subfamily B, polypeptide 2
HGNC id 2592
ASSOCIATED DISORDERS
corresponding disease(s) CMO1 , CMO2 , GSH
related resource MITOP database
Susceptibility
  • to hypertension, high blood pressure
  • to pediatric hypertrophic cardiomyopathy with poor outcome
  • Variant & Polymorphism SNP
  • homozygotes TT in hypertension, high blood pressure
  • lys 173/arg associated with stage-2 hypertension
  • T344C and A6547G strong associated with hypertension in females
  • associated with progressive septal hypertrophy and left ventricular outflow tract obstruction in children with hypertrophic cardiomyopathy
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS