TBXs
The T-box gene family encodes a large family of transcription factors with more than 24 members identified in humans (2007).
Several related genes, members of the T-box gene family, encode a similar N-terminal DNA-binding domain, the T-box, and play critical roles in human embryonic development.
Memebrs
| TBX1 | TBX2 | TBX3 | TBX4 | TBX5 | TBX6 | TBX7 | TBX8 | TBX9 | TBX10 |
| TBX11 | TBX12 | TBX13 | TBX14 | TBX15 | TBX16 | TBX17 | TBX18 | TBX19 | TBX20 |
| TBX21 | TBX22 | TBX23 | TBX24 |
Pathology
Mutations in the mouse T (Brachyury) gene (MIM.601397) cause defects in mesoderm formation.
Mutations in human TBX5 (MIM.601620) and TBX3 (MIM.601621), for example, cause the developmental disorders Holt-Oram syndrome (MIM.142900) and ulnar-mammary syndrome (MIM.181450), respectively.
TBX1 mutations: DiGeorge syndrome
TBX3 mutations: Ulnar-Mammary syndrome
TBX5 mutations: Holt-Oram syndrome
TBX19 mutations: ACTH deficiency
TBX20 mutations: diverse cardiac pathologies, including defects of septation and valvulogenesis and cardiomyopathy (17668378)
TBX22 mutations: X-linked cleft palate with ankyloglossia (MIM.303400)
References
Wilson V, Conlon FL. The T-box family. Genome Biol. 2002;3(6):REVIEWS3008. PMID: 12093383
Packham EA, Brook JD. T-box genes in human disorders. Hum Mol Genet. 2003 Apr 1;12 Spec No 1:R37-44. PMID: 12668595
Gibert Y, Begemann G. Variations on a ’T’: orchestration of T-box signalling in development. Trends Genet. 2002 Dec;18(12):615-6. PMID: 12446141
Smith J. T-box genes: what they do and how they do it. Trends Genet. 1999 Apr;15(4):154-8. PMID: 10203826