Cftr - CF transmembrane conductance regulator Gene
Also Known as RGD1561193
Species: Rattus norvegicus
About Cftr
This gene has 5 transcripts (splice variants), 215 orthologues, 11 paralogues and is associated with 83 phenotypes.
Summary
Predicted to enable several functions, including PDZ domain binding activity; Sec61 translocon complex binding activity; and anion transmembrane transporter activity. Involved in several processes, including animal organ development; anion transport; and regulation of cell development. Located in several cellular components, including apical plasma membrane; basolateral plasma membrane; and microvillus. Colocalizes with early endosome. Used to study congenital bilateral absence of vas deferens; cystic fibrosis; dental enamel hypoplasia; duodenal ulcer; and gastric ulcer. Biomarker of autosomal recessive polycystic kidney disease; cholestasis; and salpingitis. Human ortholog(s) of this gene implicated in several diseases, including alcoholic pancreatitis; allergic bronchopulmonary aspergillosis; bronchial disease (multiple); congenital bilateral absence of vas deferens (multiple); and lung disease (multiple). Orthologous to human CFTR (CF transmembrane conductance regulator). [provided by Alliance of Genome Resources, Apr 2022]
Cftr Products (1)
| mRNA | Protein | Name |
|---|---|---|
| NM_031506.1 | NP_113694.1 | cystic fibrosis transmembrane conductance regulator |
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
cystic fibrosis transmembrane conductance regulator |
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