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Defective CFTR causes cystic fibrosis

Summary

Organism

Homo sapiens (human)

Reactome

R-HSA-5678895

PubChem

R-HSA-5678895

Description

Cystic fibrosis transmembrane conductance regulator (CFTR) is a low conductance chloride-selective channel that mediates the transport of chloride ions in human airway epithelial cells. Chloride ions plays a key role in maintaining homoeostasis of epithelial secretions in the lungs. Defects in CFTR can cause cystic fibrosis (CF; MIM:602421), a common generalised disorder in Caucasians affecting the exocrine glands. CF results in an ionic imbalance that impairs clearance of secretions, not only in the lung, but also in the pancreas, gastrointestinal tract and liver. Wide-ranging manifestations of the disease include chronic lung disease, exocrine pancreatic insufficiency, blockage of the terminal ileum, male infertility and salty sweat. The median survival of CF patients in North America and Western Europe is around 40 years (Davis 2006, Radlovic 2012).

Click on a node on the pathway to see its details. Glycoproteins are marked with a glycoprotein icon in their name.

SPV: a JavaScript Signaling Pathway Visualizer, Bioinformatics, 2018

Displaying entries **1 - 10** of 29 in total

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UniProt ID	Protein Name	Gene Symbol	Pathway Viewer
O00231	26S proteasome non-ATPase regulatory subunit 11	PSMD11	view
O00487	Ubiquitin C-terminal hydrolase PSMD14	POH1 PSMD14	view
O14818	Proteasome subunit alpha type-7	HSPC PSMA7	view
O43242	26S proteasome non-ATPase regulatory subunit 3	PSMD3	view
O75477	Erlin-1	C10orf69 ERLIN1 KE04 KEO4 SPFH1	view
O94905	Erlin-2	C8orf2 ERLIN2 SPFH2 UNQ2441/PRO5003/PRO9924	view
P13569	Cystic fibrosis transmembrane conductance regulator	ABCC7 CFTR	view
P17980	26S proteasome regulatory subunit 6A	PSMC3 TBP1	view
P20618	Proteasome subunit beta type-1	PSC5 PSMB1	view
P25786	Proteasome subunit alpha type-1	HC2 NU PROS30 PSC2 PSMA1	view

Displaying **all 2** entries
GlyCosmos Lectin	UniProt ID	Lectin Name	Pathway Viewer
GL_000990	Q13438	Protein OS-9	view
GL_005506	Q9UBV2	Protein sel-1 homolog 1	view

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