| umls-concept:C2698694 | skos:definition | NCI: Human PITX2 wild-type allele is located within 4q25-q27 and is approximately 25 kb in length. This allele, which encodes pituitary homeobox 2 protein, plays a role in both the modulation of transcription and the regulation of pancreatic development. Mutations in the gene are associated with Rieger syndrome type 1, iridogoniodysgenesis type 2, Peters anomaly, and ring dermoid of cornea. (UniProt) | lld:umls |
