Send to

Choose Destination
Genomics. 1991 Dec;11(4):931-40.

cDNA cloning of the type 1 neurofibromatosis gene: complete sequence of the NF1 gene product.

Author information

Department of Human Genetics, University of Michigan Medical Center, Ann Arbor 48109.


Von Recklinghausen neurofibromatosis, or type 1 neurofibromatosis (NF1), is a common autosomal dominant disorder characterized by abnormalities in multiple tissues derived from the embryonic neural crest. Portions of the gene have been recently identified by positional cloning, and sequence analysis has shown homology to the GTPase activating protein (GAP) family. In this report we present the results of an extensive cDNA walk resulting in the cloning of the complete coding region of the NF1 transcript. Analysis of the sequences reveals an open reading frame of 2818 amino acids, although alternatively spliced products may code for different protein isoforms. The gene extends for approximately 300 kb on chromosome 17, with its promoter in a CpG-rich island.

[Indexed for MEDLINE]
Free full text

Supplemental Content

Full text links

Icon for Elsevier Science Icon for MLibrary (Deep Blue)
Loading ...
Support Center