Full name: T-box transcription factor 5

Gene type: protein coding

RefSeq status: REVIEWED

Also known as: HOS

Summary: 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]

Expression: Biased expression in heart (RPKM 12.5), placenta (RPKM 8.8) and 6 other tissues

Gene size: 54532bp

Exon count: 10