Rabbit anti-Human PITX2 Polyclonal Antibody

Uniprot Id

Q99697

Target Species

Human

Target Name

PITX2

Target Full Name

Pituitary homeobox 2

Target Function

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.

Target Involvement

Axenfeld-Rieger syndrome 1 (RIEG1); Anterior segment dysgenesis 4 (ASGD4); Ring dermoid of cornea (RDC)

Target Subcellular Location

Nucleus.

Target Protein Families

Paired homeobox family, Bicoid subfamily

Target Synonyms

All1 responsive gene 1; ALL1 responsive protein ARP1; ALL1-responsive protein ARP1; ARP 1; ARP1; Brx 1; Brx1; Homeobox protein PITX2; IDG 2; IDG2; IGDS 2; IGDS; IGDS2; IHG 2; IHG2; IRID 2; IRID2; MGC111022; MGC20144; Otlx 2; Otlx2; Paired like homeodomain transcription factor 2; Paired-like homeodomain transcription factor 2; Pituitary homeo box 2; Pituitary homeobox 2; PITX 2; pitx2; PITX2_HUMAN; PTX 2; PTX2; RGS; RIEG 1; RIEG; Rieg bicoid related homeobox transcription factor 1; RIEG bicoid related homeobox transcription factor; RIEG bicoid-related homeobox transcription factor; RIEG1; RS; Solurshin

Target Background

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.