genetics
Last reviewed 07/2023
The NF1 gene is a tumour suppressor gene located on chromosome 17q. The gene product, neurofibromin, is involved in the regulation of the ras oncogene product.
Alternate splicing of the NF1 transcript resuls in several mRNAs, two of which differ by the presence or absence of a single exon. The two transcripts (type I and type II) are differentially expressed in developing neurons. Undifferentiated cells predominantly express the type I transcript, whereas differentiated cells predominantly express the type II transcript. Neurofibromas predominantly express the type II transcript.