Major facilitator superfamily domain-containing protein 8 (MFSD8)

Major facilitator superfamily domain-containing protein 8 (MFSD8) is a ubiquitous integral lysosomal membrane protein and putative secondary active transporter belonging to the atypical MFS transporter family.[1][2][5] Its physiological substrate is unknown. MFSD8 plays a role in membrane transport and endolysosomal chloride homeostasis, and is implicated in neuronal ceroid lipofuscinosis (variant late-infantile type, CLN7 disease), a severe neurodegenerative disorder presenting with developmental regression, seizures, ataxia, and vision loss.[2][3][7] MFSD8 is not currently known as a direct target of any therapeutic drugs and no pharmacological modulators have been identified to date.

Other names

MFSD8CLN7ceroid-lipofuscinosis neuronal 7, late infantile, variantMGC33302CCMD

Potential modulation of lysosomal transporter function or chloride conductance; precise mechanisms not established due to unknown physiological substrate