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Rabbit Anti-PITX2/FITC Conjugated antibody
background:
Pitx2 also regulates lung symmetry by encoding “leftness” of the lung. Pitx2 is asymmetrically expressed in the left lateral-plate mesoderm, and mutant mice with laterality defects show altered patterns of Pitx2 expression that correlate with changes in the visceral symmetry. The genes which encode Pitx1 and Pitx2 map to human chromosomes 5q31 and 4q25-q26, respectively.May play an important role in development and maintenance of anterior structures. Isoform PTX2C is involved in left-right asymmetry the developing embryo.
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.
Subcellular Location:
Nucleus.
Post-translational modifications:
Phosphorylation at Thr-90 impairs its association with the CCND1 mRNA-stabilizing complex thus shortening the half-life of CCND1.
DISEASE:
Defects in PITX2 are the cause of Axenfeld-Rieger syndrome type 1 (RIEG1) [MIM:36500]; 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) [MIM:137600]; also known as iridogoniodysgenesis syndrome 2 (IGDS2). It is an autosomal dominant inherited disease.
Defects in PITX2 are a cause of Peters anomaly (PAN) [MIM:604229]. It is a congenital defect of the anterior chamber of the eye.
Defects in PITX2 are associated with ring dermoid of cornea (RDC) [MIM:36550]. RDC is an autosomal dominantly inherited syndrome characterized by bilateral annular limbal dermoids with corneal and conjunctival extension.
Similarity:
Belongs to the paired homeobox family. Bicoid subfamily.
Contains 1 homeobox DNA-binding domain.
Database links:
Entrez Gene: 5308 Human
Omim: 601542 Human
SwissProt: Q3KQX9 Human
SwissProt: Q99697 Human
Unigene: 643588 Human
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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