ΔF508
The abbreviation, F508 or in the spelling without special characters F508del is the name of a gene mutation in the region 7q31.2 of the long arm of human chromosome 7 that the disease cystic fibrosis triggers (Cystic fibrosis).
This CFTR gene ( Cystic Fibrosis Transmembrane Conductance Regulator ) codes for a protein made up of 1480 amino acids , which represents a cAMP- regulated chloride channel from the class of ABC transporters and is therefore jointly responsible for the ion exchange in the cell membrane. The gene and the mutation F508 were described in 1989 by F. Collins, LC Tsui and J. Riordan.
In the F508 mutation, the amino acid phenylalanine (F in the one -letter code ) is missing at position 508 due to a deletion (= ) of three nucleotides . As a result, the resulting protein is not processed further when it is folded in the endoplasmic reticulum , but marked with ubiquitin and broken down by the proteasome . Accordingly, they can be assigned to class II of the CFTR mutations. If the protein that is produced does reach the cell membrane, in principle it has limited functionality.
There are over 2000 other known mutations in the CFTR gene.
Sources and literature
- JR Riordan, JM Rommens u. a .: Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA. In: Science. Volume 245, Number 4922, September 1989, pp. 1066-1073, ISSN 0036-8075 . PMID 2475911 .
- D. Reinhardt, M. Götz, R. Kraemer, MH Schöni (Eds.): Cystic Fibrosis. Jumper; Berlin, Heidelberg, New York 2001, ISBN 3-540-67485-3
Web links
Individual evidence
- ↑ Cystic Fibrosis Mutation Database: Statistics. (No longer available online.) Archived from the original on July 11, 2017 ; accessed on June 27, 2017 . Info: The archive link was inserted automatically and has not yet been checked. Please check the original and archive link according to the instructions and then remove this notice.
