The NF1 gene is located on chromosome 17 (17q11.2) and codes for the protein neurofibromin. It contains 61 exons over 350 Kb of genomic DNA 1. NF1 is considered a tumor suppressor gene.
Clinical significance
Neurofibromatosis 1 (NF1) is caused by mutations in the NF1 gene. There have been repeated attempts to establish a correlation between genotype and phenotype without success. The only established correlation is in patients with large gene deletions 1.
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