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skos:definition |
NCI: Endometrial Bleeding Associated Factor, encoded by the human EBAF gene, is a member of the TGF-beta family of proteins. This protein is secreted and plays a role in left-right asymmetry determination of organ systems during development. It is transiently expressed before and during menstrual bleeding and may also play a role in endometrial bleeding. Mutations in this gene have been associated with left-right axis malformations, particularly in the heart and lungs. Some types of infertility have been associated with dysregulated expression of this gene in the endometrium. Alternative processing of this protein can yield three different products. (From LocusLink, Swiss-Prot and NCI)
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