Gene Symbol | TBX20 |
Entrez Gene ID | 57057 |
Full Name | T-box 20 |
Synonyms | ASD4 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Atrial septal defect 4, 611363 (3) |