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FLASH GENE
Symbol CYP11B1 contributors: mct/npt - updated : 02-06-2010
HGNC name cytochrome P450, family 11, subfamily B, polypeptide 1
HGNC id 2591
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • N terminal 24 AA mitochondrial signal sequence
    • conjugated HemoP
    mono polymer monomer
    isoforms Precursor
    HOMOLOGY
    interspecies homolog to bovine p-450 11 beta
    intraspecies homolog to CYP11B2
    Homologene
    FAMILY
  • cytochrome P450 subfamily XIB
  • multigenic cytochrome P450 superfamily of mixed-function monooxygenases
    • CATEGORY enzyme , transport
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria,inner
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,cytosolic,microsome
    basic FUNCTION
  • involved in glucocorticoid biosynthesis
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS electron transport
    PATHWAY
    metabolism hormone
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule cofactor, nucleotide,
  • NADPH, heme
    • protein
  • flavoprotein P450 oxidoreductase (POR)
    • cell & other
    REGULATION
    Other regulated by cyclic AMP (cAMP)-dependent signaling
    ASSOCIATED DISORDERS
    corresponding disease(s) CYP11B1 , GSH
    Susceptibility to aldosterone-producing adenoma (APA)
    Variant & Polymorphism other
  • -344 C/T and intron 2 conversion associated with markers of impaired 11beta-hydroxylase activity
  • rs6410 most frequent in patients with aldosterone-producing adenoma (APA) (Zhang 2010)
    • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS