Gene: CFTR (cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7))  Homo sapiens

Symbol: CFTR
Name: cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
Description: 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. Alternatively spliced transcript variants have been described, many of which result from mutations in this gene. [provided by RefSeq, Jul 2008]
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: ABC35; ABCC7; ATP-binding cassette sub-family C member 7; ATP-binding cassette transporter sub-family C member 7; cAMP-dependent chloride channel; CF; CFTR/MRP; channel conductance-controlling ATPase; cystic fibrosis transmembrane conductance regulator; cystic fibrosis transmembrane conductance regulator, atp-binding cassette (sub-family c, member 7); dJ760C5.1; MRP7; OTTHUMP00000024694; OTTHUMP00000196524; TNR-CFTR
Orthologs: Mus musculus : Cftr (cystic fibrosis transmembrane conductance regulator)  MGI
Rattus norvegicus : Cftr (cystic fibrosis transmembrane conductance regulator)
Related Pseudogenes: CFTRP1  
Latest Assembly: Human Genome Assembly GRCh37
Position:
MapChrPositionStrandSource
Human Alternate Assembly CHM1_17120,471,601 - 120,660,327+NCBI
Human Alternate Assembly CRA_TCAGchr7v27116,515,451 - 116,704,154+NCBI
Human Genome Assembly HuRef7111,485,640 - 111,674,189+NCBI
Human Genome Assembly GRCh377117,120,017 - 117,308,719+NCBI
Human Genome Assembly Build 367116,907,253 - 117,095,955+NCBI
Human Cytogenetic Map7q31.2 NCBI
Human Genome Assembly7116,713,967 - 116,902,666 NCBI
Model

Launch Genome Browser (GBrowse) : build 36 (hg18) build 37 (hg19)


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