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TBX3 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 protein is a transcriptional repressor and is thought to play a role in the anterior/posterior axis of the tetrapod forelimb. Mutations in this gene cause ulnar-mammary syndrome, affecting limb, apocrine gland, tooth, hair, and genital development. Alternative splicing of this gene results in three transcript variants encoding different isoforms; however, the full length nature of one variant has not been determined.
Gene Name: | T-box 3 |
Synonyms: | TBX3, T-box 3, T-box protein 3, TBX3-ISO, UMS, XHL, Ulnar mammary syndrome |
Target Sequences: | NM_016569 NP_057653.3 O15119 |
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