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Background
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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. 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, and sporadic cases of Peters anomaly. A similar protein in other vertebrates is involved in the determination of left-right asymmetry during development. Alternatively spliced transcript variants encoding distinct isoforms have been described.
Alias Symbols: ARP1, Brx1, IDG2, IGDS, IGDS2, IHG2, IRID2, MGC111022, MGC20144, Otlx2, PTX2, RGS, RIEG, RIEG1, RS
Protein Interaction Partner: CTNNB1,HDAC1,KAT5,LEF1,PDLIM1,PITX2,PROP1,HERC5,MSX2,PITX2,Pou1f1,TRIM25
Protein Size: 317
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