Recombinant Human T-box transcription factor TBX5 (TBX5)

Uniprot Id

Q99593

Target Species

Human

Target Name

TBX5

Target Full Name

T-box transcription factor TBX5

Target Function

DNA-binding protein that regulates the transcription of several genes and is involved in heart development and limb pattern formation. Binds to the core DNA motif of NPPA promoter.

Target Involvement

Holt-Oram syndrome (HOS)

Target Subcellular Location

Nucleus. Cytoplasm.

Target Research Area

Cardiovascular

Target Synonyms

Holt Oram syndrome; HOS; T box 5; T box protein 5; T box transcription factor TBX 5; T box transcription factor TBX5; T-box protein 5; T-box transcription factor TBX5; TBX 5; TBX5; TBX5_HUMAN; Transcription factor T box 5

Target Background

This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. This gene is closely linked to related family member T-box 3 (ulnar mammary syndrome) on human chromosome 12. The encoded protein may play a role in heart development and specification of limb identity. Mutations in this gene have been associated with Holt-Oram syndrome, a developmental disorder affecting the heart and upper limbs. Several transcript variants encoding different isoforms have been described for this gene.