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Forkheard Box

Protein families, or protein domain families, are groups of protein domains that are related somehow, usually by gene families or evolutionary parameters. Proteins within a family have common ancestors from which they descend. This gives proteins within the same domain family similar three-dimensional structures, functions, and sequence similarities. Between 40 and 65% of proteins known will show sequence similarity to other proteins. When sequence similarity is known, structural and functional similarity is assumed. Forkhead box or FOX transcription factors are a class of transcription factors whose main purpose is to bind DNA and regulate the expressions of genes involved in cell growth, proliferation, differentiation, and longevity. These proteins share a sequence of 80-100 amino acids. Their defining shared structural characteristic is the forkhead box which is a winged helix with a butterfly-like appearance. Forkhead box proteins are also classified in the subgroup of helix-turn-helix proteins.

Anti-FOXC1 antibody binds against FOXC1. FOXC1 is a forkhead box protein that binds FREAC-3 and FREAC-4 to their sites on DNA. This process results in the bending of DNA at an 80-90 degree angle. FOXC1 is localized in the nucleus of a cell and expressed in all tissues and cell lines. Defects in FOXC1 are the cause of Axenfeld-Rieger syndrome type 3, iridogoniodysgenesis, and Peter’s anomaly. Axenfeld-Rieger syndrome type 3 is a disorder of the eye. Axenfeld-Rieger syndrome type 3 is an autosomal dominant disorder in which affected individuals often have abnormalities of the iris, pupil, and teeth in addition to a glaucoma (found in 50% of diagnosed individuals). Iridogoniodysgenesis is a hereditary ocular disease characterized by unusually dark irises and often times glaucoma. Peter’s anomaly is a very rare disorder which causes corneal opacity which effectively decreases the ability to see to the point of near or complete blindness.

 

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