Scientific background: |
Cystic fibrosis transmembrane conductance regulator(CFTR), also called ABC35 or ABCC7, is a protein that in humans is encoded by the CFTR gene. This gene is mapped to 7q31.2. This gene encodes a member of the ATP-binding cassette (ABC) transporter superfamily. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MRP subfamily that is involved in multi-drug resistance. The encoded protein functions as a chloride channel and controls the regulation of other transport pathways. Mutations in this gene are associated with the autosomal recessive disorders cystic fibrosis and congenital bilateral aplasia of the vas deferens. |
References: |
1. Audrezet, M.-P., Chen, J.-M., Raguenes, O., Chuzhanova, N., Giteau, K., Le Marechal, C., Quere, I., Cooper, D. N., Ferec, C. Genomic rearrangements in the CFTR gene: extensive allelic heterogeneity and diverse mutational mechanisms. Hum. Mutat. 23: 343-357, 2004.
2. Di, A., Brown, M. E., Deriy, L. V., Li, C., Szeto, F. L., Chen, Y., Huang, P., Tong, J., Naren, A. P., Bindokas, V., Palfrey, H. C., Nelson, D. J. CFTR regulates phagosome acidification in macrophages and alters bactericidal activity. Nat. Cell Biol. 8: 933-944, 2006.
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