LEFTY2

This gene encodes a member of the TGF-beta family of proteins. The encoded protein is secreted and plays a role in left-right asymmetry determination of organ systems during development. The protein 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. This gene is closely linked to both a related family member and a related pseudogene. [provided by RefSeq]

left-right determination factor 2

Required for left-right (L-R) asymmetry determination of organ systems in mammals. May play a role in endometrial bleeding.

BMP signaling pathwayManual Assertion Based On ExperimentIBA:GO_Central
Positive regulation of pathway-restricted SMAD protein phosphorylationManual Assertion Based On ExperimentIBA:GO_Central
SMAD protein signal transductionManual Assertion Based On ExperimentIBA:GO_Central

Secreted

Left-right axis malformations (LRAM):
The defect includes left pulmonary isomerism, with cardiac anomalies characterized by complete atrioventricular canal defect and hypoplastic left ventricle, and interrupted inferior vena cava.

The processing of the protein may also occur at the second R-X-X-R site located at AA 132-135. Processing appears to be regulated in a cell-type specific manner.