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| The Chromosome 7 Annotation Project |
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| Gene / Transcript Structure |
| General information |
| Class | Known_Gene |
| TCAG Gene ID | GA0044 [Old ID: HSC7000044] |
| Gene Symbol | CFTR [HUGO ID: CFTR] |
| Gene Name | Cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7) |
| Synonyms | ABC35, ABCC7, CF, MRP7 |
| Summary | 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. |
| Omim | Cystic fibrosis transmembrane conductance regulator (ATP-binding cassette, subfamily C, member 7) | 602421 |
| Phenotype | Congenital bilateral absence of vas deferens [277180] Cystic fibrosis [219700] Hypertrypsinemia, neonatal [602421] Pancreatitis, idiopathic [602421] Sweat chloride elevation without CF [602421] |
| Gene Ontology | ●Biological process Ion transport [GO:0006811] Respiratory gaseous exchange [GO:0007585] ●Cellular component Apical plasma membrane [GO:0016324] Basolateral plasma membrane [GO:0016323] Integral to plasma membrane [GO:0005887] Membrane fraction [GO:0005624] ●Molecular function ATP binding [GO:0005524] ATP-binding and phosphorylation-dependent chloride channel activity [GO:0005224] ATP-binding cassette (ABC) transporter activity [GO:0004009] PDZ domain binding [GO:0030165] Channel-conductance-controlling ATPase activity [GO:0005260] Ion channel activity [GO:0005216] Protein binding [GO:0005515] |
| Transcript | CFTR | T00058 | M28668.1 |
| External links |
| Transcript Sequence(s) |
Note: Some data originated from NCBI's LocusLink.