Neurofibromin 1 pseudogene 2 (NF1P2)

Neurofibromin 1 pseudogene 2 (NF1P2) is a non-processed pseudogene related to the NF1 gene and located on human chromosome 2[2][3]. It consists of DNA sequences highly homologous to parts of the NF1 gene but lacks protein-coding capacity, including critical functional domains, notably the GAP-related domain required for the neurofibromin protein’s Ras GTPase activity[2][3]. NF1P2 and closely related pseudogenes on chromosomes 14 and 22 likely arose during primate evolution by segmental duplication and transposition events. Unlike the functional NF1 gene, mutations or variation in NF1P2 have no known biological or clinical significance. NF1P2 is NOT a functional protein, receptor, or therapeutic target. It is a pseudogene (genomic remnant) with no evidence for expression, function, or druggability, and should NOT be confused with NF1, the protein-coding gene encoding the neurofibromin tumor suppressor[2][3].

Other names

NF1 pseudogene 2Neurofibromatosis type 1 pseudogene 2