LEFTY2

Description

The LEFTY2 (left-right determination factor 2) is a protein-coding gene located on chromosome 1.

LEFTY2 is a protein encoded by the LEFTY2 gene in humans. It belongs to the TGF-beta family and is secreted, playing a crucial role in determining the left-right asymmetry of organ systems during embryonic development. LEFTY2 might also be involved in endometrial bleeding. Mutations in the LEFTY2 gene have been linked to left-right axis malformations, particularly affecting the heart and lungs. Dysregulated expression of LEFTY2 in the endometrium has been associated with certain types of infertility. The protein can be processed into three different products through alternative processing. The LEFTY2 gene is closely linked to a related family member and a related pseudogene. Multiple transcript variants arise from alternative splicing of this gene.

LEFTY2 is also known as EBAF, LEFTA, LEFTYA, TGFB4.

Associated Diseases

• visceral heterotaxy
• right atrial isomerism
• tricuspid atresia
• congenital heart defects, multiple types, 6
• heterotaxy, visceral, 5, autosomal
• ciliary dyskinesia, primary, 40
• atrial septal defect, ostium primum type
• ventricular septal defect 1
• Meacham syndrome
• pancreatic hypoplasia-diabetes-congenital heart disease syndrome
• renal-hepatic-pancreatic dysplasia
• lung agenesis-heart defect-thumb anomalies syndrome
• congenital heart defects, multiple types, 7
• VACTERL association, X-linked, with or without hydrocephalus