T-box transcription factor TBX5 selections

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T-box transcription factor TBX5; T-box protein 5 (TBX5)

Function: - role in the transcriptional regulation of genes required for mesoderm differentiation - probably plays a role in limb pattern formation - monomer Structure: - contains 1 T-box DNA-binding domain Compartment: nucleus (putative) Alternative splicing: named isoforms=2; long, short Pathology: - defects in TBX5 are the cause of Holt-Oram syndrome

TBX5 gene

General

T-box (TBX) protein

Properties

SIZE: entity length = 518 aa MW = 58 kD COMPARTMENT: cell nucleus MOTIF: T-box domain SITE: 58-238

Database Correlations

OMIM correlations MORBIDMAP 601620 UniProt Q99593 Pfam PF00907 Entrez Gene 6910 Kegg hsa:6910

References

UniProt :accession Q99593
GeneReviews http://www.ncbi.nlm.nih.gov/sites/genetests/lab/gene/TBX5