Home Page
References OMIM Gene GeneReviews HGMD HGNC
GENATLAS PHENOTYPE
last update : 03-03-2009
Symbol POF4
Location 9q33.3
Name premature ovarian failure 4
Other name(s)
  • primary ovarian insufficiency 7
  • 46,XX gonadal dysgenesis
    • Corresponding gene NR5A1
    Other symbol(s) XXDSD, POF7
    Genetic determination
    Related entries SRA3
    Function/system disorder sex-genitalia
    Type disease
    Gene product
    Name steroidogenic factor-1 is a nuclear receptor key transcriptional regulator of genes involved in the hypothalamic-pituitary-steroidogenic axis
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    various types   abnormal protein/loss of function in-frame deletions, frameshift and missense mutations
    Remark(s) incomplete penetrance