Entrez gene ID | | 6926 |
Official gene symbol | | TBX3 |
Full name | | T-box 3 |
Aliases | | ,TBX3-ISO,UMS,XHL, |
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 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. [provided by RefSeq] |
Location | | Chromosome: 12 Locus: 12q24.1 |
Gene position | | 115121969 - 115108059 Map Viewer |
Gene orientation | | minus |
Gene size | | 13911 bp |
Gene sequence |
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OMIM ID | | 601621 |
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