| Protein Name | paired like homeodomain 2 |
|---|---|
| Organism | Homo sapiens |
| Gene ID | 5308 |
| Gene Symbol | PITX2 |
| UniProt | Q99697 (PITX2_HUMAN) |
| Relationships |
Total Number of functionally related compound(s) :
230
Total Number of Articles : 263 |
Description |
paired like homeodomain 2 |
| Gene Summary |
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. [provided by RefSeq, Jul 2008] |
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