LEFTY-A Antibody – Mouse Monoclonal

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. Alternate splicing of this gene results in multiple transcript variants. [provided by RefSeq, Feb 2010]

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

Subcellular location: Secreted.

Tissue specificity: Mesenchymal cells of the endometrial stroma.

Developmental stage: Transiently expressed before and during menstrual bleeding.

Post-translational modification: 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.

Involvement in disease: Left-right axis malformations (LRAM) [MIM:601877]: The defect includes left pulmonary isomerism, with cardiac anomalies characterized by complete atrioventricular canal defect and hypoplastic left ventricle, and interrupted inferior vena cava.Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.2

Sequence similarities: Belongs to the TGF-beta family.

Sequence caution: The sequence AAB53269.1 differs from that shown. Reason: Authors have revised their sequence, but have not submitted the revised DNA sequence.