TBX5 Products

Description

TBX5 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.

Bioinformatics

Entrez	6910 Human
Uniprot	AAH27942 Human AAH27942.1 Human NM_181486 Human NP_000183 Human
Product By Gene ID	6910
Alternate Names	HOS T-box 5 T-box protein 5 T-box transcription factor TBX5