Application:IF,ICC/IF
Reactivity: (predicted: Human,Mouse,Rat)
MFSD8 is a 518 amino acid multi-pass membrane protein of the lysosome that is thought to function as a carrier protein that transports small solutes by way of chemiosmotic ion gradients. Expressed at low levels in many tissues, MFSD8 is encoded by a gene that maps to human chromosome 4q28.1. Defects in the gene encoding MFSD8 are the cause of a late infantile neuronal ceroid lipofuscinosis known as neuronal ceroid lipofuscinosis type 7 (CLN7). CLN7 is characterized by seizures, progressive dementia and visual failure.