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Symbol CYP11A1 contributors: mct/npt - updated : 21-11-2017
HGNC name cytochrome P450, family 11, subfamily A, polypeptide 1
HGNC id 2590
ASSOCIATED DISORDERS
corresponding disease(s) CYP11A1D
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
constitutional     --over  
in severe preeclampsia compared with normal pregnancy in both mRNA and protein levels (pMID!: 23555523)
Susceptibility
  • to breast cancer
  • to polycystic ovary syndrome (PCOS)
  • Variant & Polymorphism other
  • common variants that may influence expression to significantly modify risk of breast cancer (Yaspan 2007)
  • association between CYP11A1 promoter pentanucleotide repeat polymorphism and PCOS
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS