Total FoxC1/2 Cell-Based Colorimetric ELISA Kit_ImmunoWay Biotechnology Company |抗体|病理抗体|诊断抗体

Total FoxC1/2 Cell-Based Colorimetric ELISA Kit

Background：
disease:Defects in FOXC1 are a cause of Axenfeld-Rieger syndrome (ARS) [MIM:601090]; also known as Axenfeld syndrome or Axenfeld anomaly. It is characterized by posterior corneal embryotoxon, prominent Schwalbe line and iris adhesion to the Schwalbe line. Other features may be hypertelorism (wide spacing of the eyes), hypoplasia of the malar bones, congenital absence of some teeth and mental retardation. When associated with tooth anomalies, the disorder is known as Rieger syndrome. Glaucoma is a progressive blinding condition that occurs in approximately half of patients with Axenfeld-Rieger malformations.,disease:Defects in FOXC1 are a cause of Peters anomaly [MIM:604229]. Peters anomaly consists of a central corneal leukoma, absence of the posterior corneal stroma and Descemet membrane, and a variable degree of iris and lenticular attachments to the central aspect of the posterior cornea.,disease:Defects in FOXC1 are the cause of iridogoniodysgenesis anomaly (IGDA) [MIM:601631]. IGDA is an autosomal dominant phenotype characterized by iris hypoplasia, goniodysgenesis, and juvenile glaucoma.,function:Binding of FREAC-3 and FREAC-4 to their cognate sites results in bending of the DNA at an angle of 80-90 degrees.,similarity:Contains 1 fork-head DNA-binding domain.,subunit:Monomer.,tissue specificity:Expressed in all tissues and cell lines examined.,

Function：
skeletal system development, ossification, ovarian follicle development, blood vessel development, eye development,urogenital system development, metanephros development, ureteric bud development, in utero embryonic development, formation of primary germ layer, mesoderm formation, kidney development, vasculature development,lymph vessel development, blood vessel remodeling, reproductive developmental process, heart morphogenesis,circulatory system process, vascular process in circulatory system, polysaccharide metabolic process, aminoglycan metabolic process, transcription, regulation of transcription, DNA-dependent, regulation of transcription from RNA polymerase II promoter, anti-apoptosis, cell motion, cell surface receptor linked signal transduction, enzyme linked receptor protein signaling pathway, transmembrane receptor protein tyrosine kinase signaling pathway, Notch signaling pat

Subcellular Location：
Nucleus . Colocalizes with PITX2 isoform 3 in the nucleus at subnuclear chromatine regions (PubMed:16449236). Colocalizes with CBX5 to a heterochromatin-rich region of the nucleus (PubMed:15684392). Colocalizes with GLI2 in the nucleus (By similarity). .

Expression：
Expressed in keratinocytes of epidermis and hair follicle (PubMed:27907090). Expressed strongly in microvascular invasion (MVI) formation, basal-like breast cancer (BLBC) and hepatocellular tumors (PubMed:20406990, PubMed:22991501). Expressed in breast cancers (at protein level) (PubMed:26565916). Expressed in hematopoietic cells (PubMed:8499623).