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CFTR - CF transmembrane conductance regulator
- Synonym(s) : ABC35, ATP-binding cassette sub-family C, member 7, CFTR/MRP, dJ760C5.1, MRP7, TNR-CFTR
- Previous symbols and names : ABCC7, CF, cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)
- Type : gene with protein product
- Chromosomal location : 7q31.2
- OMIM: 602421
- HGNC: 1884
- UniProtKB: P13569
- Genatlas: CFTR
- GenCC: CFTR
- Ensembl: ENSG00000001626
- IUPHAR-DB: 707
- Reactome: P13569
- LOVD: CFTR
Diseases list
- Disease-causing germline mutation(s) in Congenital bilateral absence of vas deferens
ORPHA:48 
- Disease-causing germline mutation(s) (loss of function) in Cystic fibrosis
ORPHA:586 - Major susceptibility factor in Male infertility with azoospermia or oligozoospermia due to single gene mutation
ORPHA:399805 - Candidate gene tested in Aquagenic palmoplantar keratoderma
ORPHA:498359 - Candidate gene tested in Hereditary chronic pancreatitis
ORPHA:676 - Candidate gene tested in Idiopathic bronchiectasis
ORPHA:60033
: AssessedAdditional information
Patient-centred resources for this gene
Research activities on this gene
Specialised Social Services
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