ΔF508

The abbreviation, F508, or in the notation without special characters F508del is the name given to a genetic mutation in the region 7q31.2 on the long arm of human chromosome 7, the CF ( Cystic fibrosis) causes the disease.

This CFTR gene ( cystic fibrosis transmembrane conductance regulator ) encodes a protein of 1,480 amino acids, which is a cAMP -regulated chloride channel from the class of ABC transporters and therefore is partly responsible in the cell membrane for the ion exchange. The gene and the mutation were F508 1989 by F. Collins, LC Tsui and J. Riordan described.

In the F508 mutation is absent at the point 508, the amino acid phenylalanine ( F in single letter code ) due to a deletion (=) of three nucleotides. As a result, the resulting protein is not processed in the folding in the endoplasmic reticulum, but marked with ubiquitin and degraded by the proteasome. Accordingly, they can be categorized into the class II CFTR mutations. The resulting protein yet reached the cell membrane, it is limited in principle functional.

There are over 1000 other known mutations in the CFTR gene, under the European population, however, is the F508 mutation in 89 % of patients, at 54 % even in homozygous ( homozygous ) form dominant.

Sources and Literature

  • Riordan JR, et al.: Identification of the Cystic Fibrosis Gene. Cloning and Characterization of Complementary DNA. Science 245: 1066-1073 (1989 ) Erratum in: Science 245:1437 (1989 ) PMID 2475911
  • D. Reinhardt, M. Goetz, R. Kraemer, M.H. Schoeni (eds): Cystic fibrosis. Springer; Berlin, Heidelberg, New York 2001, ISBN 3-540-67485-3
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