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[clarification needed] 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.
^Basson CT, Bachinsky DR, Lin RC, Levi T, Elkins JA, Soults J, Grayzel D, Kroumpouzou E, Traill TA, Leblanc-Straceski J, Renault B, Kucherlapati R, Seidman JG, Seidman CE (January 1997). "Mutations in human TBX5 [corrected] cause limb and cardiac malformation in Holt-Oram syndrome". Nat Genet15 (1): 30–5. doi:10.1038/ng0197-30. PMID8988165.
^Terrett JA, Newbury-Ecob R, Cross GS, Fenton I, Raeburn JA, Young ID, Brook JD (September 1994). "Holt-Oram syndrome is a genetically heterogeneous disease with one locus mapping to human chromosome 12q". Nat Genet6 (4): 401–4. doi:10.1038/ng0494-401. PMID8054982.
Li QY, Newbury-Ecob RA, Terrett JA, et al. (1997). "Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene family". Nat. Genet.15 (1): 21–9. doi:10.1038/ng0197-21. PMID8988164.
He ML, Chen Y, Peng Y, et al. (2002). "Induction of apoptosis and inhibition of cell growth by developmental regulator hTBX5". Biochem. Biophys. Res. Commun.297 (2): 185–92. doi:10.1016/S0006-291X(02)02142-3. PMID12237100.
Garg V, Kathiriya IS, Barnes R, et al. (2003). "GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5". Nature424 (6947): 443–7. doi:10.1038/nature01827. PMID12845333.
Huang T, Lock JE, Marshall AC, et al. (2003). "Causes of clinical diversity in human TBX5 mutations". Cold Spring Harb. Symp. Quant. Biol.67: 115–20. doi:10.1101/sqb.2002.67.115. PMID12858531.