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

More general terms

• T-box (TBX) protein

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=6910
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:6910
• OMIM: https://mirror.omim.org/entry/142900
• OMIM: https://mirror.omim.org/entry/601620
• UniProt: http://www.uniprot.org/uniprot/Q99593.html