{"symbol":"PITX2","synonyms":["BRX1","RIEG","IDG2","ASGD4","IHG2","OTLX2","IGDS","ARP1","IRID2","RIEG1","IGDS2","RGS"],"name":"paired-like homeodomain 2","description":"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]","ncbiEntrezGeneId":5308,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/5308","proteins":[{"symbol":"PITX2_HUMAN","href":"/api/1.0/protein/PITX2_HUMAN"}],"hgncRootFamilies":[{"name":"Homeoboxes","href":"/api/1.0/gene_family/Homeoboxes"}]}