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pitx2

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Official Full Name
paired-like homeodomain 2
Background
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.
Synonyms
PITX2; paired-like homeodomain 2; IHG2, IRID2, paired like homeodomain transcription factor 2 , RGS, RIEG, RIEG1; pituitary homeobox 2; ARP1; Brx1; IGDS; Otlx2; RS; All1 responsive gene 1; ALL1 responsive protein ARP1; ALL1-responsive protein ARP1; ARP 1; Brx 1; Homeobox protein PITX2; IDG 2; IDG2; IGDS 2; IGDS2; IHG 2; IHG2; IRID 2; IRID2; MGC111022; MGC20144; Otlx 2; Paired like homeodomain transcription factor 2; Paired-like homeodomain transcription factor 2; Pituitary homeo box 2; PITX 2; PITX2_HUMAN; PTX 2; PTX2; RGS; RIEG 1; RIEG; Rieg bicoid related homeobox transcription factor 1; RIEG bicoid related homeobox transcription factor; RIEG bicoid-related homeobox transcription factor; RIEG1; Solurshin; OTTHUMP00000163734; OTTHUMP00000163735; OTTHUMP00000163736; OTTHUMP00000163737; OTTHUMP00000163738; OTTHUMP00000219750; OTTHUMP00000219751; all1-responsive gene 1; ALL1-responsive protein; rieg bicoid-related homeobox transcription factor 1; cPITX2; transcription factor Pitx2; pitx2a; pitx2c; zgc:110508; pitx2b; paired-like homeodomain transcription factor 2a; PITX1