基因名:
FOXC1
产品别名:
ARA; ASGD3; FKHL7; FREAC-3; FREAC3; IGDA; IHG1; IRID1; RIEG3; FOXC1; forkhead box C1; forkhead box C1; forkhead box protein C1; forkhead box C1 protein; forkhead, drosophila, homolog-like 7; forkhead-related activator 3; forkhead-related protein FKHL7; forkhead-related transcription factor 3; forkhead/winged helix-like transcription factor 7; myeloid factor-delta; 叉头框蛋白C1(FOXC1); 叉头相关转录因子3/FOXC1;
背景信息:
Binding of FREAC-3 and FREAC-4 to their cognate sites results in bending of the DNA at an angle of 80-90 degrees.
Involvement in disease; Defects in FOXC1 are the cause of Axenfeld-Rieger syndrome type 3 (RIEG3); also known as Axenfeld-Rieger syndrome (ARS) or 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.