The PITX2 gene encodes a member of the RIEG/PITX homeobox family, which is in the bicoid class of homeodomain proteins. This protein acts as a transcription factor and regulates procollagen lysyl hydroxylase gene expression. Mutations in PITX2 are associated with Axenfeld-Rieger syndrome (ARS), iridogoniodysgenesis syndrome (IGDS), and sporadic cases of Peters anomaly. This protein is involved in the development of the eye, tooth and abdominal organs. It also acts as a transcriptional regulator involved in basal and hormone-regulated activity of prolactin.
Alias Symbols: RS, RGS, ARP1, Brx1, IDG2, IGDS, IHG2, PTX2, RIEG, IGDS2, IRID2, Otlx2, RIEG1
Protein Interaction Partner: CTNNB1,HDAC1,KAT5,LEF1,PDLIM1,PITX2,PROP1,HERC5,MSX2,PITX2,Pou1f1,TRIM25
Protein Size: 324