Topic: dNf1

Neurofibromatosis 1 (NF1) is a hereditary autosomal dominant disorder affecting 1 in 3500 individuals. It presents with skin abnormalities, Lisch nodules, and neurofibromas. Patients often exhibit macrocephaly, short stature, learning disabilities, and attention deficits. Children and adults with NF1 are also at increased risk for sleep disturbances. The human NF1 gene (17q11.2) encodes neurofibromin, a 2818-amino-acid protein expressed in various nervous system cells throughout life. Nf1 best-understood and evolutionarily conserved role is as a GTPase Activating Protein (GAP) for Ras, which r