| umls-concept:C1705304 | skos:definition | NCI: Human TBP wild-type allele is located in the vicinity of 6q27 and is approximately 18 kb in length. This allele, which encodes TATA-box-binding protein, is involved in the mediation of transcription. Mutations that expand the number of CAG nucleotide repeats in the gene are associated with spinocerebellar ataxia 17. (SwissProt) | lld:umls |
