TBX3, Official Symbol TBX3provided by HGNC Official Full Name T-box transcription factor 3provided by HGNC Primary source HGNC:HGNC:11602 See related Ensembl:ENSG00000135111 MIM:601621; AllianceGenome:HGNC:11602 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as UMS; XHL; TBX3-ISO 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, Jul 2008] Expression Biased expression in adrenal (RPKM 89.8), prostate (RPKM 51.1) and 11 other tissues See more Orthologs mouse all