Anti-MFSD8 antibody

Supplementary info

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

Activity summary

The MFSD8 protein also known as Major Facilitator Superfamily Domain containing protein 8 is an integral membrane protein involved in lysosomal function. It has a molecular mass of approximately 63 kDa. MFSD8 is expressed in a variety of tissues with high expression levels in the brain and retina. This suggests its importance in neurological and visual functions. The protein is part of the major facilitator superfamily which is known for its role in transporting small solutes across cell membranes.

Biological function summary

MFSD8 functions in lysosomal maintenance and intracellular transport processes. It plays an important role in transporting molecules within cells and maintaining lysosomal homeostasis. MFSD8 associates with other lysosomal proteins and components to execute its functions efficiently. By stabilizing lysosomal membranes it aids in the proper degradation of cellular waste highlighting its role within the cellular recycling system.

Pathways

MFSD8 participates in cellular nutrient sensing and waste management pathways namely the lysosomal degradative pathway and mTOR signaling pathway. The protein works alongside other important lysosomal proteins such as LAMP1 and LAMP2 to ensure effective lysosome function. Through its role in the mTOR signaling pathway MFSD8 influences cellular metabolism and growth processes linking it to nutrient availability and cellular energy status.

Associated diseases and disorders

Abnormalities in MFSD8 have connections to neuronal ceroid lipofuscinosis a group of neurodegenerative disorders particularly variant CLN7. Mutations in the MFSD8 gene lead to malfunction in lysosomal autophagy resulting in cell toxicity and death. These mutations often correlate with protein instability and defective lysosomal activity. Additionally MFSD8 associations with retinal dystrophy highlight its significant role in visual health and disease progression impacting proteins involved in retinal maintenance.