Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2017 Jul 26;3(4):e169.
doi: 10.1212/NXG.0000000000000169. eCollection 2017 Aug.

Updated nomenclature for human and mouse neurofibromatosis type 1 genes

Corina Anastasaki  1 , Lu Q Le  1 , Robert A Kesterson  1 , David H Gutmann  1
Affiliations

Updated nomenclature for human and mouse neurofibromatosis type 1 genes

Corina Anastasaki et al. Neurol Genet. .
No abstract available

PubMed Disclaimer

Figures

Figure 1
Figure 1. Proposed nomenclature for human NF1 and mouse Nf1 genes
(A) Schematic diagram illustrating the 57 exons of the human (top panel) and mouse (bottom panel) full-length transcripts, as well as the positions of the alternatively spliced exons (11alt12, 12alt13, 30alt31, and 56alt57). The proposed numbering system is denoted in each exon, while the prior numbering system is indicated below each exon. The RAS-GTPase-activating protein and the CRAL-TRIO domains are highlighted in gray. (B) Table detailing the nucleotides and amino acids spanning each of the 57 exons in human NF1 and mouse Nf1 genes. CRAl-TRIO domain = cellular retinaldehyde-binding protein and TRIO guanine exchange factor structural domain.
See this image and copyright information in PMC

References

    1. Patil S, Chamberlain RS. Neoplasms associated with germline and somatic NF1 gene mutations. Oncologist 2012;17:101–116. - PMC - PubMed
    1. Marchuk DA, Saulino AM, Tavakkol R, et al. cDNA cloning of the type 1 neurofibromatosis gene: complete sequence of the NF1 gene product. Genomics 1991;1:931–940. - PubMed
    1. Geist RT, Gutmann DH. Expression of a developmentally-regulated neuron-specific isoform of the neurofibromatosis 1 (NF1) gene. Neurosci Lett 1996;211:85–88. - PubMed
    1. Gutmann DH, Andersen LB, Cole JL, Swaroop M, Collins FS. An alternatively-spliced mRNA in the carboxy terminus of the neurofibromatosis type 1 (NF1) gene is expressed in muscle. Hum Mol Genet 1993;2:989–992. - PubMed
    1. Kaufmann D, Müller R, Kenner O, et al. The N-terminal splice product NF1-10a-2 of the NF1 gene codes for a transmembrane segment. Biochem Biophys Res Commun 2002;294:496–503. - PubMed