LEFTY1

LEFTY1 is a gene that in humans is encoded by the LEFTY1 gene. It is a member of the transforming growth factor beta (TGF-beta) family of proteins. These proteins are involved in different types of cellular processes, including cell growth, cell differentiation, apoptosis, and immune response.

Function[edit | edit source]

LEFTY1 is a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. This protein plays roles in left-right asymmetry determination of organ systems during development.

Clinical significance[edit | edit source]

Mutations in the LEFTY1 gene have been associated with left-right axis malformations, particularly in the heart and lungs. Some of these mutations result in the protein product being unable to be secreted, which leads to a loss of function. This can lead to conditions such as situs inversus, where the normal left-right asymmetry of organs is reversed.