IZUMO1

izumo sperm-oocyte fusion 1

Summary

The sperm-specific protein Izumo, named for a Japanese shrine dedicated to marriage, is essential for sperm-egg plasma membrane binding and fusion (Inoue et al., 2005 [PubMed 15759005]).[supplied by OMIM, Mar 2008]

Known Variants19 total

rsidPosition (GRCh37)AllelesClassClinVar
rs76703423619:49,244,571C/T—uncertain significance
rs14917444719:49,244,636G/A—uncertain significance
rs14593424819:49,244,660G/A—uncertain significance
rs75806359919:49,244,735A/G—uncertain significance
rs96722095719:49,245,106G/A—uncertain significance
rs77275546119:49,245,153G/A—uncertain significance
rs123147584919:49,245,175A/C—uncertain significance
rs141366550619:49,245,187T/A—uncertain significance
rs134154331119:49,246,732G/A—uncertain significance
rs83814719:49,246,866A/T——
rs15104764319:49,247,785C/T—uncertain significance
rs83814619:49,248,052C/G——
rs83814519:49,248,730G/Aregulatory region variant—
rs20179093419:49,248,887A/G—likely benign
rs74735304719:49,248,903C/T—uncertain significance
rs37775504719:49,248,972G/A—uncertain significance
rs203387001619:49,249,107G/A—uncertain significance
rs14514499019:49,249,359C/Tdownstream gene variant—
rs2840001319:49,250,672C/A——

Gene information from NCBI Gene. Variant classifications from ClinVar.