| umls-concept:C2699751 | skos:definition | NCI: Human TBX1 wild-type allele is located in the vicinity of 22q11.21 and is approximately 27 kb in length. This allele, which encodes T-box transcription factor TBX1, plays roles in regulation of transcription, proliferation of the thymus and auditory epithelium, and function of the parathyroid and heart. Mutations in this wt allele are associated with many features of 22q11.2 deletion syndrome. | lld:umls |
