Pilx2 is 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. It 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 protein 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.
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Protein Aliases: all1-responsive gene 1; ALL1-responsive protein ARP1; BRX1 homeoprotein; Homeobox protein PITX2; homeodomain transcription factor 2; Orthodenticle-like homeobox 2; paired-like homeodomain 2; Paired-like homeodomain transcription factor 2; Paired-like homeodomain transcription factor Munc 30; Pituitary homeobox 2; RIEG bicoid-related homeobox transcription factor; rieg bicoid-related homeobox transcription factor 1; rPtx2; S a 1 glycoprotein; S a1glycoprotein; S alpha 1 glycoprotein; S α 1 glycoprotein; S α1glycoprotein; Solurshin
Gene Aliases: 9430085M16Rik; ARP1; Brx1; Brx1b; IDG2; IGDS; IGDS2; IHG2; IRID2; Munc30; Otlx2; Pitx-2; PITX2; Pitx2c; PTX2; RGS; RIEG; RIEG1; RS