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


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_000492 Homo sapiens cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) (CFTR), mRNA. GenEZ ORF Cloning On-demand $1699.00 25

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Gene Symbol CFTR
Entrez Gene ID 1080
Full Name cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
Synonyms ABC35, ABCC7, CF, CFTR/MRP, MRP7, TNR-CFTR, dJ760C5.1
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

7

7q31.2

Summary 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].
Disorder

MIM: 602421

Cystic fibrosis, 219700 (3); Congenital bilateral absence of vas

mRNA Protein Product Sequence Price Select
NM_000492, 90421312 NP_000483, 90421313 cystic fibrosis transmembrane conductance regulator ORF Sequence $1500.00
KEGG
hsa04972Pancreatic secretion
hsa04971Gastric acid secretion
hsa04976Bile secretion
hsa02010ABC transporters
hsa05110Vibrio cholerae infection
Reactome
REACT_15518Transmembrane transport of small molecules
REACT_15480ABC-family proteins mediated transport
Homo sapiens (human)CFTRNP_000483.3
Pan troglodytes (chimpanzee)CFTRNP_001073386.1
Macaca mulatta (Rhesus monkey)CFTRNP_001028110.1
Canis lupus familiaris (dog)CFTRNP_001007144.1
Bos taurus (cattle)CFTRNP_776443.1
Mus musculus (house mouse)CftrNP_066388.1
Rattus norvegicus (Norway rat)CftrNP_113694.1
Gallus gallus (chicken)CFTRNP_001099136.1
Danio rerio (zebrafish)cftrNP_001038348.1
GeneCards CFTR
PDB 1XMI, 2LOB, 1NBD, 3ISW, 2PZG, 2BBO, 2PZF, 2BBS, 2BBT, 3GD7, 1XMJ, 2PZE
UniProt P13569
MIM 602421
Ensembl ENSG00000001626
HGNC 1884
HPRD 03883

GeneRIFs: Gene References Into Functions What's a GeneRIF?

General protein information

Preferred Names
cystic fibrosis transmembrane conductance regulator
Names
cystic fibrosis transmembrane conductance regulator
cAMP-dependent chloride channel
channel conductance-controlling ATPase
NP_000483.3

Interactant



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