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TBX5 Involved in the transcriptional regulation of genes required for mesoderm differentiation. Probably plays a role in limb pattern formation. Defects in TBX5 are the cause of Holt-Oram syndrome (HOS). HOS is a developmental disorder affecting the heart and upper limbs. It is characterized by thumb anomaly and atrial septal defects. 2 isoforms of the human protein are produced by alternative splicing. Note: This description may include information from UniProtKB.
Protein type: DNA-binding; Transcription factor
Chromosomal Location of Human Ortholog: 12q24.21
Cellular Component: cytoplasm; nucleoplasm; nucleus
Molecular Function: DNA binding; DNA binding transcription factor activity; protein binding; sequence-specific DNA binding; transcription factor binding
Biological Process: cardiac muscle cell differentiation; cell-cell signaling; embryonic forelimb morphogenesis; embryonic limb morphogenesis; forelimb morphogenesis; heart development; lung development; morphogenesis of an epithelium; negative regulation of cardiac muscle cell proliferation; negative regulation of cell migration; negative regulation of cell proliferation; pattern specification process; pericardium development; positive regulation of cardiac muscle cell proliferation; positive regulation of cardioblast differentiation; positive regulation of transcription from RNA polymerase II promoter; positive regulation of transcription, DNA-templated; transcription initiation from RNA polymerase II promoter
Disease: Holt-oram Syndrome
Reference #:  Q99593 (UniProtKB)
Alt. Names/Synonyms: HOS; T-box 5; T-box protein 5; T-box transcription factor TBX5; TBX5
Gene Symbols: TBX5
Molecular weight: 57,711 Da
Basal Isoelectric point: 7.14  Predict pI for various phosphorylation states
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