| Name | cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7) |
| Symbol | CFTR |
| Aliases | CF; MRP7; ABC35; ABCC7; CFTR/MRP; ATP-binding cassette, sub-family C member 7 |
| Gene Product | - cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)
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| Category | |
| UniGene |
Hs.411882
Hs.489783
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| Reference Sequence |
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| OMIM and SNP |
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| Locus |
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| Summary | The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. 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 which is involved in multi-drug resistance. This protein functions as a chloride channel and controls the regulation of other transport pathways. Mutations in this gene have been observed in patients with the autosomal recessive disorders cystic fibrosis (CF) and congenital bilateral aplasia of the vas deferens (CBAVD). Alternative splice variants have been described, many of which result from mutations in the CFTR gene. |
| Gene Ontology | |
| Expression | | EST (104 ESTs, 45 libraries) |
| Tissue | Breadth ? |
CPM ? |
| blood |  | | | brain | | | | colon | | | | germ cell | | | | kidney |  | | | liver | | | | lung | | | | muscle | | | | ovary | | | | pancreas | | | | stomach | | | | uncharacterized tissue | | | | uterus | | |
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| Evidence | Mutation in System Syndrom with Kidney Involvment
- Casals T, Bassas L, Egozcue S, Ramos MD, Gimenez J, Segura A, Garcia F, Carrera M, Larriba S, Sarquella J, Estivill X Heterogeneity for mutations in the CFTR gene and clinical correlations inpatients with congenital absence of the vas deferens. Hum Reprod 2000 Jul;15(7):1476-83.
Other key publications related to this gene
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