background:
Binding of FREASLC3 and FREASLC4 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.
Function:
Binding of FREASLC3 and FREASLC4 to their cognate sites results in bending of the DNA at an angle of 80-90 degrees.
Subunit:
Monomer.
Subcellular Location:
Nucleus.
Tissue Specificity:
Expressed in all tissues and cell lines examined.
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.
[DISEASE] Defects in FOXC1 are a cause of Peters anomaly (PAN) [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.
Similarity:
Contains 1 fork-head DNA-binding domain.
Database links:
Entrez Gene: 2296 Human
Entrez Gene: 17300 Mouse
GenBank: NP_001444 Human
Omim: 601090 Human
SwissProt: Q12948 Human
SwissProt: Q61572 Mouse
SwissProt: Q32NP8 Xenopus laevis
Unigene: 348883 Human
Unigene: 12949 Mouse
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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