The official full name of the gene is neurofibromin 1 (NF1). The gene expresses normally in Homo sapiens; however, the expression has been discovered in orthologs such as a mouse and Drosophila melanogaster. As its molecular function, NF1 acts as a tumor suppressor gene. Tumor suppressors prevent the uneven and rapid division of cells. The disorder caused by the gene is Neurofibromatosis type 1 also known as NF1. Neurofibromin 1 has 60 exons (57 constitutive, three alternatives) with the presence of 3 cryptic genes (NCBI, “NF1″). Various other studies have given different results either indicating that the gene has 57 or 61 exons and spans across 3.5kb (OMIM). NF1 contains three alleles: OMGP, EVI2B, and EVI2A, which lie within its introns in opposite orientation. The various alleles have coding potential.
The gene allele variants result in more than one disorder. The most common of the disorders is the neurofibromatosis type 1 (NF-1), a common autosomal dominant gene disorder. Although the condition is unique, it affects approximately 1 in 35,000 individuals across the world (Paschou and Doxakis 1). The diseases exhibit in a spectrum of somatic and cognitive symptoms that include café lait macules, Lisch nodules, neurofibromas, and other forms of learning disabilities. In most instances, persons affected by the disease are heterozygous for the NF1 gene mutation, while homozygous mutations are essentially hazardous.
Studies indicate the presence of physiological regulation of NF1 expression by miRNAs; miR-128, miR-137, and miR-103 have been identified as new regulators since they exhibit an overlapping expression with NF1 in various tissues and are neuronal, implying that they refine the fluctuations of endogenous NF1 levels in the central nervous system (Paschou and Doxakis 2). Other disorders include juvenile myelomonocytic leukemia, Watson syndrome, and oncogenesis. The Watson syndrome is an autosomal dominant condition with cardiac malformation and occurs in the von Recklinghausen neurofibromatosis, café-au-lait spots, and to a reduced extent in the neurofibromas.