Izumo Sperm-Egg Fusion Protein 1

Alternative Names

  • IZUMO1
  • Sperm-Specific Protein Izumo
  • MGC34799
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OMIM Number

609278

NCBI Gene ID

284359

Uniprot ID

Q8IYV9

Length

6,058 bases

No. of Exons

10

No. of isoforms

3

Protein Name

Izumo sperm-egg fusion protein 1

Molecular Mass

38930 Da

Amino Acid Count

350

Genomic Location

chr19:48,740,852-48,746,909

Gene Map Locus
19q13.33

Description

The sperm-specific protein Izumo, named for a Japanese shrine dedicated to marriage, is essential for sperm-egg plasma membrane binding and fusion. [From OMIM]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_182575.3:c.235+152=United Arab EmiratesNC_000019.10:g.48745473=AssociationNM_182575.3:c.235+152=; NP_001308793.1:p.?838145
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