PITX2, NT (PITX2, ARP1, RGS, RIEG, RIEG1, Pituitary homeobox 2, ALL1-responsive protein ARP1, Homeobox protein PITX2, Paired-like homeodomain transcription factor 2, RIEG bicoid-related homeobox transcription factor, Solurshin) (FITC)

This gene encodes a member of the RIEG/PITX homeobox family, which is in the bicoid class of homeodomain proteins. The encoded protein acts as a transcription factor and regulates procollagen lysyl hydroxylase gene expression. This protein plays a role in the terminal differentiation of somatotroph and lactotroph cell phenotypes, is involved in the development of the eye, tooth and abdominal organs, and acts as a transcriptional regulator involved in basal and hormone-regulated activity of prolactin. Mutations in this gene are associated with Axenfeld-Rieger syndrome, iridogoniodysgenesis syndrome,...