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]
SKU | Test Kits | Buffer | Dye Color | Order Now |
---|---|---|---|---|
TBX5-20-RE | 20 (40 μL) | 200 μL | ![]() |
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TBX5-20-OR | 20 (40 μL) | 200 μL | ![]() |
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TBX5-20-GO | 20 (40 μL) | 200 μL | ![]() |
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TBX5-20-GR | 20 (40 μL) | 200 μL | ![]() |
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TBX5-20-AQ | 20 (40 μL) | 200 μL | ![]() |
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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]
Gene Symbol : TBX5
Gene Name : T-box 5
Chromosome : CHR 12: 114,408,707-114,353,910
Locus : 12q24.21
Alt. Genes : CELA3A
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