| Entrez gene ID | | 6910 |
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| Official gene symbol | | TBX5 |
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| Full name | | T-box 5 |
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| Aliases | | ,HOS, |
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| Gene 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] |
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| Location | | Chromosome: 12 Locus: 12q24.1 |
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| Gene position | | 114846247 - 114791735 Map Viewer |
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| Gene orientation | | minus |
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| Gene size | | 54513 bp |
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| Gene sequence |
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| OMIM ID | | 601620 |
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