T-box transcription factor TBX3; T-box protein 3 (TBX3)

Function

• transcriptional repressor
• role in developmental processes
• probably plays a role in limb pattern formation

Structure

contains 1 T-box DNA-binding domain

Compartment

nucleus (putative)

Alternative splicing

• named isoforms=4
• isoform 4 splicing of exon1 to exxon 7 may eliminate the T-box domain

Expression

widely expressed

Pathology

• defects in TBX3 are the cause of ulnar-mammary syndrome

More general terms

• T-box (TBX) protein
• transcriptional silencer (transcriptional repressor)
• phosphoprotein

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=6926
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:6926
• OMIM: https://mirror.omim.org/entry/181450
• OMIM: https://mirror.omim.org/entry/601621
• UniProt: http://www.uniprot.org/uniprot/O15119.html