T-box transcription factor TBX1; T-box protein 1; testis-specific T-box protein (TBX1)

Function

• probable transcriptional regulator
• role in developmental processes
• required for normal development of the pharyngeal arch arteries (putative)

Structure

contains 1 T-box DNA-binding domain

Compartment

nucleus (putative)

Alternative splicing

named isoforms=3; A, B, C

Pathology

• defects in TBX1 are a cause of
  • DiGeorge syndrome
  • velocardiofacial syndrome
  • conotruncal heart malformation

More general terms

• T-box (TBX) protein
• testis-specific protein

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=6899
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:6899
• OMIM: https://mirror.omim.org/entry/188400
• OMIM: https://mirror.omim.org/entry/192430
• OMIM: https://mirror.omim.org/entry/217095
• OMIM: https://mirror.omim.org/entry/602054
• UniProt: http://www.uniprot.org/uniprot/O43435.html