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References OMIM Gene GeneReviews HGMD HGNC
last update : 23-01-2013
Symbol POF5
Location 7q35
Name premature ovarian failure, 5
Corresponding gene NOBOX
Main clinical features
  • early menopause, and elevated FSH level
  • Genetic determination autosomal dominant
    Prevalence 6.2 p100 of POF
    Function/system disorder sex-genitalia
    Type disease
  • R355H mutation, acted as a dominant negative and disrupted binding of wildtype NOBOX to DNA in electrophoretic mobility shift assays