Anti-CFTR antibody

Supplementary info

This supplementary information is collated from multiple sources and compiled automatically.

Activity summary

The CFTR protein also known as the cystic fibrosis transmembrane conductance regulator acts as a channel that facilitates the transport of chloride ions across cell membranes. This protein plays an essential role in maintaining ion balance and hydration in various tissues. CFTR is a large glycoprotein with a molecular mass of approximately 170 kDa. It is expressed in the epithelial cells of organs such as the lungs pancreas and intestines. Its location and function underpin its significance in cellular activities and interactions.

Biological function summary

CFTR impacts the regulation of epithelial fluid movement and mucus consistency. It integrates into the cellular membrane interacting with other protein channels to form a regulatory complex. The CFTR protein's ability to transport chloride ions aids in maintaining the osmotic gradients required for proper mucus hydration. This helps prevent the build-up of thick mucus particularly in the respiratory system where it can impact breathing and infection resistance.

Pathways

The CFTR protein functions critically in electrolyte transport pathways that are connected to the regulation of ion channels and cellular signaling processes. It interacts closely with other protein channels and transporters such as ENaC forming part of the epithelial sodium channels pathway. This pathway contributes significantly to the balance of salt and water transport across epithelial surfaces. Another related pathway involves its interaction with the cAMP-dependent protein kinase (PKA) which phosphorylates CFTR modulating its activity and stability in response to cellular signals.

Associated diseases and disorders

CFTR mutations are directly linked to cystic fibrosis a genetic condition that affects the lungs and digestive system. In cystic fibrosis dysfunctional CFTR proteins lead to the production of thick and sticky mucus resulting in respiratory and digestive complications. CFTR is also associated with congenital bilateral absence of the vas deferens (CBAVD) often related to male infertility. In both conditions protein interactions and chloride transport disruption serve as critical influences on disease progression and symptom manifestation.