Gene Symbol | PITX2 |
Entrez Gene ID | 5308 |
Full Name | paired like homeodomain 2 |
Synonyms | ARP1,ASGD4,Brx1,IDG2,IGDS,IGDS2,IHG2,IRID2,Otlx2,PTX2,RGS,RIEG,RIEG1,RS |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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]. |
Disorder MIM: | |
Disorder Html: | Axenfeld-Rieger syndrome, type 1, 180500 (3); Ring dermoid of cornea, 180550 (3); Anterior segment dysgenesis 4, 137600 (3) |