MFSD8 : major facilitator superfamily domain containing 8


Description

The MFSD8 (major facilitator superfamily domain containing 8) is a protein-coding gene located on chromosome 4.

The MFSD8 gene provides instructions for producing a protein with an unknown function. This protein is embedded within the membranes of lysosomes, cellular compartments responsible for digesting and recycling various molecules. It belongs to the major facilitator superfamily, a group of proteins involved in transporting molecules within cells or across cell membranes. While it is likely that MFSD8 transports molecules across the lysosomal membrane, the specific molecules it moves have not been identified.

MFSD8 is an outward-rectifying chloride channel that plays a crucial role in maintaining chloride balance within endolysosomes. It conducts chloride currents, reaching hundreds of picoamperes, contributing to membrane fusion and overall lysosomal function. MFSD8 regulates the concentration of calcium within lysosomes by reducing the membrane potential. This activation triggers the TRPML1 channel, leading to the release of additional calcium ions. MFSD8 also regulates the pH levels within endolysosomes, potentially contributing to the gradual acidification process as endosomes mature into lysosomes. Notably, MFSD8 is permeable to other halide ions, including iodide and fluoride.

MFSD8 is also known as CCMD, CLN7.

Associated Diseases


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