Major facilitator superfamily domain-containing 8 (MFSD8)

Major facilitator superfamily domain-containing 8 (MFSD8) is a lysosomal membrane protein predicted to function as a solute transporter. The precise transported substrate is unknown. Mutations in the MFSD8 gene cause variant late-infantile neuronal ceroid lipofuscinosis (vLINCL, CLN7), a severe neurodegenerative lysosomal storage disorder. MFSD8 localizes primarily to neurons and astrocytes and participates in lysosomal and autophagic pathways, contributing to neuronal health. Recent studies indicate rare variants may also increase risk for adult neurodegenerative diseases like frontotemporal dementia. No current drugs directly target MFSD8, but the gene and protein serve as key diagnostic and research markers for NCL and related neurodegenerative disorders

Other names

CLN7CCMDMFSD8