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/Tuncertain significance
rs14917444719:49,244,636G/Auncertain significance
rs14593424819:49,244,660G/Auncertain significance
rs75806359919:49,244,735A/Guncertain significance
rs96722095719:49,245,106G/Auncertain significance
rs77275546119:49,245,153G/Auncertain significance
rs123147584919:49,245,175A/Cuncertain significance
rs141366550619:49,245,187T/Auncertain significance
rs134154331119:49,246,732G/Auncertain significance
rs83814719:49,246,866A/T
rs15104764319:49,247,785C/Tuncertain significance
rs83814619:49,248,052C/G
rs83814519:49,248,730G/Aregulatory region variant
rs20179093419:49,248,887A/Glikely benign
rs74735304719:49,248,903C/Tuncertain significance
rs37775504719:49,248,972G/Auncertain significance
rs203387001619:49,249,107G/Auncertain significance
rs14514499019:49,249,359C/Tdownstream gene variant
rs2840001319:49,250,672C/A

Gene information from NCBI Gene. Variant classifications from ClinVar.