TBX20 Antibody – Rabbit Polyclonal

This gene encodes a T-box family member. The T-box family members share a common DNA binding domain, termed the T-box, and they are transcription factors involved in the regulation of developmental processes. This gene is essential for heart development. Mutations in this gene are associated with diverse cardiac pathologies, including defects in septation, valvulogenesis and cardiomyopathy. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]

TBX20: Probable transcriptional regulator involved in developmental processes. Defects in TBX20 are the cause of atrial septal defect type 4 (ASD4). ASD4 is a congenital heart malformation characterized by incomplete closure of the wall between the atria resulting in blood flow from the left to the right atria. ASD4 patients show other heart abnormalities including defects in septation, chamber growth and valvulogenesis. ASD4 is not associated with defects in the cardiac conduction system or with non-cardiac abnormalities.

Protein type: DNA-binding; Transcription factor

Chromosomal Location of Human Ortholog: 7p14.3

Cellular Component: cytoplasm; nucleus

Molecular Function: transcription factor activity

Biological Process: transcription, DNA-dependent; blood circulation; lateral mesoderm formation; neuron migration; negative regulation of transcription from RNA polymerase II promoter; patterning of blood vessels; cell proliferation; visceral motor neuron differentiation; muscle contraction; dorsal/ventral pattern formation; endoderm formation; cardiac muscle morphogensis; positive regulation of transcription from RNA polymerase II promoter; heart looping; negative regulation of transcription, DNA-dependent; positive regulation of cardiac muscle cell proliferation

Disease: Atrial Septal Defect 4