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TBX4 Involved in the transcriptional regulation of genes required for mesoderm differentiation. Probably plays a role in limb pattern formation. Defects in TBX4 are the cause of small patella syndrome (SPS); also known as ischiopatellar dysplasia or Scott-Taor syndrome. SPS is an autosomal dominant skeletal dysplasia characterized by patellar aplasia or hypoplasia and by anomalies of the pelvis and feet, including disrupted ossification of the ischia and inferior pubic rami. Note: This description may include information from UniProtKB.
Protein type: DNA-binding
Chromosomal Location of Human Ortholog: 17q23.2
Molecular Function: transcription factor activity
Biological Process: limb morphogenesis; skeletal morphogenesis
Disease: Small Patella Syndrome
Reference #:  P57082 (UniProtKB)
Alt. Names/Synonyms: SPS; T-box 4; T-box protein 4; T-box transcription factor TBX4; TBX4
Gene Symbols: TBX4
Molecular weight: 60,204 Da
Basal Isoelectric point: 7.34  Predict pI for various phosphorylation states
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Protein Structure Not Found.

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