{"symbol":"TBX5","synonyms":["HOS"],"name":"T-box 5","description":"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. [provided by RefSeq, Jul 2008]","ncbiEntrezGeneId":6910,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/6910","proteins":[{"symbol":"TBX5_HUMAN","href":"/api/1.0/protein/TBX5_HUMAN"}],"hgncRootFamilies":[{"name":"T-boxes (TBX)","href":"/api/1.0/gene_family/T-boxes+%28TBX%29"}]}