PITX2 Antibody – Rabbit Polyclonal

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]

PITX2: Controls cell proliferation in a tissue-specific manner and is involved in morphogenesis. During embryonic development, exerts a role in the expansion of muscle progenitors. May play a role in the proper localization of asymmetric organs such as the heart and stomach. Isoform PTX2C is involved in left-right asymmetry the developing embryo. Defects in PITX2 are the cause of Axenfeld-Rieger syndrome type 1 (RIEG1); also known as Rieger syndrome type 1. RIEG1 is an autosomal dominant defect characterized by hypodontia (partial anodontia), anal stenosis, hypertelorism, mental deficiency, agenesis of the facial bones, with malformation of the anterior chamber of the eye. Defects in PITX2 are the cause of iridogoniodysgenesis type 2 (IRID2); also known as iridogoniodysgenesis syndrome 2 (IGDS2). It is an autosomal dominant inherited disease. Defects in PITX2 are a cause of Peters anomaly (PAN). It is a congenital defect of the anterior chamber of the eye. Defects in PITX2 are associated with ring dermoid of cornea (RDC). RDC is an autosomal dominantly inherited syndrome characterized by bilateral annular limbal dermoids with corneal and conjunctival extension. Belongs to the paired homeobox family. Bicoid subfamily. 3 isoforms of the human protein are produced by alternative splicing.

Protein type: Transcription factor; Cell cycle regulation; Motility/polarity/chemotaxis; DNA-binding

Chromosomal Location of Human Ortholog: 4q25

Cellular Component: nucleoplasm; transcription factor complex; cytoplasm; nucleus

Molecular Function: ribonucleoprotein binding; identical protein binding; protein binding; protein homodimerization activity; chromatin DNA binding; phosphoprotein binding; transcription factor binding; transcription factor activity

Biological Process: transcription from RNA polymerase II promoter; prolactin secreting cell differentiation; atrial cardiac muscle morphogenesis; ventricular cardiac muscle cell development; neuron migration; response to hormone stimulus; negative regulation of transcription from RNA polymerase II promoter; embryonic hindlimb morphogenesis; regulation of cell migration; somatotropin secreting cell differentiation; response to vitamin A; odontogenesis; regulation of transcription, DNA-dependent; embryonic digestive tract morphogenesis; vasculogenesis; extraocular skeletal muscle development; myoblast fusion; female gonad development; hypothalamus cell migration; positive regulation of DNA binding; spleen development; Wnt receptor signaling pathway; camera-type eye development; in utero embryonic development; male gonad development; hair cell differentiation; embryonic camera-type eye development; odontogenesis of dentine-containing teeth; regulation of transcription from RNA polymerase II promoter; patterning of blood vessels; subthalamic nucleus development; positive regulation of transcription from RNA polymerase II promoter; determination of left/right symmetry

Disease: Axenfeld-rieger Syndrome, Type 1; Peters Anomaly; Ring Dermoid Of Cornea; Iridogoniodysgenesis, Type 2