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FLASH GENE
Symbol NRG3 contributors: mct - updated : 06-09-2016
HGNC name neuregulin 3
HGNC id 7999
ASSOCIATED DISORDERS
corresponding disease(s) DEL10Q23
Susceptibility
  • to schizophrenia
  • to developmental delay, cognitive impairment, and autism
  • to Hirschsprung disease
  • Variant & Polymorphism SNP
  • polymorphisms in intron 1 of NRG3 (rs10883866, rs10748842, and rs6584400) increasing the risk of schizophrenia
  • recurrent microdeletions associated with a heterogeneous group of neurodevelopmental disorders, including developmental delay, cognitive impairment, and autism
  • nonsynonymous variant c.1329G>A (p.M443I) and synonymous variants c.828G>A (p.T276T) and c.1365T>A (p.P455P) increase risk of Hirschsprung disease
  • Candidate gene for congenital breast aplasia in del 10q23
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • in murine juvenile testes Ra and Fsh induced meiosis indirectly through Sertoli cells when Nrg1 and Nrg3 were upregulated, as Nrg1 amplified itself and Nrg3