Fragile Site Associated Protein (FSA)

FSA is located on the long arm of chromosome 4 in a region that is associated with susceptibility to celiac disease. The encoded protein is similar to a Chinese hamster protein that is associated with spermatocyte and adipocyte differentiation. The C-terminus of the protein is also similar to a Caenorhabditis elegans protein that plays a role in lipid storage. In mammals, this protein is thought to function in the regulation of epithelial growth and differentiation, and in tumor development. The deduced protein contains 1,957 amino acids. RT-PCR ELISA detected high expression in ovary and moderate expression in all other adult and fetal tissues examined. Within specific adult brain regions, highest expression was in amygdala, cerebellum, subthalamic nucleus, thalamus, and spinal cord.