What Causes NF1?

NF1 is a genetic disorder, meaning that it is caused by mutations in one or more of our genes.

What gene is mutated to cause NF1? The primary gene responsible for NF1 is a gene of the same name, NF1.

The NF1 gene is located on chromosome 17 in humans. In 1990, independent research teams at the University of Utah and the University of Michigan discovered the gene's location.

The NF1 gene encodes a protein called neurofibromin (NEU-ro-fi-BRO-min). Neurofibromin is 2,818 amino acids long. Compared with most proteins, that's very large!

How many DNA nucleotide bases are required to encode 2,818 amino acids?

Consider these guidelines:

  • Each amino acid is specified by a single codon of DNA sequence.
  • Each codon consists of three nucleotide bases.
  • Using these guidelines, the number of nucleotide bases required is equal to three times the number of amino acids. In this case, 2,818 x 3 = 8,454.
How do scientists locate genes for inherited disorders?

See Finding a Gene on the Chromosome Map


What happens when a mutation occurs?

A mutation within 8,454 nucleotide bases can mess up the entire protein, sometimes causing a genetic disorder. See What is a mutation? to find out how this can happen.