PITX2 Products

Description

PITX2 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.

Bioinformatics

Entrez	18741 Mouse 5308 Human
Uniprot	AAH13998 Human NM_000325 Human NM_153426 Human NM_153427 Human NP_000316 Human NP_700476 Human NP_700476.1 Human P97474 Mouse
Product By Gene ID	5308
Alternate Names	all1-responsive gene 1 ALL1-responsive protein ARP1 ARP1MGC20144 Homeobox protein PITX2 IDG2 IGDS IGDS2 IHG2 IRID2 Otlx2 paired-like homeodomain 2 Paired-like homeodomain transcription factor 2MGC111022 pituitary homeo box 2 pituitary homeobox 2 PTX2 RGSRIEG1Brx1 rieg bicoid-related homeobox transcription factor 1 RIEG bicoid-related homeobox transcription factor RIEG RS solurshin Solurshin

Research Areas for PITX2

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Stem Cell Markers