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Official Full Name: left-right determination factor 2
Also known as: EBAF; LEFTA; TGFB4; LEFTYA
This gene encodes a secreted ligand for TGF-beta (transforming growth factor-beta) superfamily proteins. Ligands of this family bind various TGF-β receptors, leading to the recruitment and activation of SMAD family transcription factors, which regulate gene expression. The encoded preproprotein undergoes proteolytic processing to generate the mature protein, which plays a role in determining the asymmetry of left and right organ systems during development. This protein may also play a role in endometrial bleeding. Mutations in this gene have been associated with left and right axis deformities, especially in the heart and lungs. Certain types of infertility have been linked to dysregulated expression of this gene in the lining of the uterus. This gene is closely related to related family members and related pseudogenes. This gene encodes multiple isoforms that likely undergo similar proteolytic processes.