Question

What is/are the phenotypes when GATA6 gene is mutated at the cellular level? How does this genotype affect the phenotype of the cell?

Answer 1

GATA6 gene encodes for zinc family transcription factors that are involved in organ development in the embryo. It is a key regulator of several genes including (ANF), A1 adenosine receptor, α- and β-myosin heavy chain, A1 adenosine receptor cardiac-restricted ankyrin repeat protein, sodium/calcium exchanger, A1 adenosine receptor, m2 muscarinic receptor and cardiac troponin C, cardiac troponin I. Mutation in GATA6 gene causes atrial fibrillation and malfunction of cardiovascular tissue resulting in Dilated cardiomyopathy and congenital defects. Mutations in GATA6 genes have also been shown to effect the development of epithelial tissue in alveoli.