Neurofibromin 1 precursor messenger RNA (NF1 pre-mRNA)

Neurofibromin 1 (NF1) pre-mRNA is the primary transcript of the NF1 gene, located on chromosome 17q11.2, which encodes the neurofibromin protein (UniProt P21359). Neurofibromin serves as a critical negative regulator of the RAS/MAPK signaling pathway by acting as a GTPase-activating protein (GAP) for RAS (PubMed: 2523866). Mutations in the NF1 gene lead to Neurofibromatosis type 1, a common autosomal dominant disorder characterized by nerve sheath tumors and cognitive deficits. Approximately 30% of NF1-causing mutations disrupt the normal splicing of NF1 pre-mRNA, leading to non-functional protein products (PubMed: 29335915). Therapeutic targeting of NF1 pre-mRNA involves the use of antisense oligonucleotides (ASOs) to modulate splicing, such as skipping mutated exons or blocking cryptic splice sites to restore the correct reading frame (PubMed: 30103155). These RNA-based strategies aim to increase the levels of functional neurofibromin, potentially offering a disease-modifying treatment for patients with specific splicing defects.

Other names

NF1 primary transcriptNeurofibromatosis type 1 pre-mRNANF1 mRNA precursor

Splicing modulation to restore the open reading frame or correct aberrant splicing patterns caused by mutations.