Gene: TBX5

Alternate names for this Gene: HOS

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.

Gene is located in Chromosome: 12

Location in Chromosome : 12q24.21

Description of this Gene: T-box transcription factor 5

Type of Gene: protein-coding

Gene: TBX5-AS1

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