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B001/B101
Shirley, MA 01464
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20700 44th Avenue W
Lynnwood, WA 98036
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PITX2 / RGS
paired-like homeodomain 2
PITX2 / RGS is 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.
| Gene Name: | paired-like homeodomain 2 |
| Synonyms: | PITX2, All1-responsive gene 1, ARP1, Brx1, Homeobox protein PITX2, IGDS2, IRID2, Iridogoniodysgenesis type 2, IGDS, Pituitary homeobox 2, PTX2, ALL1-responsive protein ARP1, RGS, Solurshin, Otlx2, Paired-like homeodomain 2, RIEG, RIEG1, RS, IDG2, IHG2 |
| Target Sequences: | NM_000325 NP_000316.2 Q99697 |
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