其他名称： FOXC1; FKHL7; FREAC3; Forkhead box protein C1; Forkhead-related protein FKHL7; Forkhead-related transcription factor 3; FREAC-3; FOXC2; FKHL14; MFH1; Forkhead box protein C2; Forkhead-related protein FKHL14; Mesenchyme fork head protein 1;
实测条带： 57kD
功能： 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.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： 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). .
组织表达： 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).
其他名称： FOXC1; FKHL7; FREAC3; Forkhead box protein C1; Forkhead-related protein FKHL7; Forkhead-related transcription factor 3; FREAC-3; FOXC2; FKHL14; MFH1; Forkhead box protein C2; Forkhead-related protein FKHL14; Mesenchyme fork head protein 1;
实测条带： 57kD
功能： 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.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： 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). .
组织表达： 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).
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