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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.
ALL1-responsive protein ARP1
, all1-responsive gene 1
, homeobox protein PITX2
, paired-like homeodomain transcription factor 2
, pituitary homeobox 2
, rieg bicoid-related homeobox transcription factor 1
, BRX1 homeoprotein
, orthodenticle-like homeobox 2
, paired-like homeodomain transcription factor Munc 30
, paired-like homeodomain transcription factor 2a
, homeodomain transcription factor 2
, transcription factor Pitx2
, homeodomain transcription factor Pitx2