Application:IF,ICC/IF
Reactivity: (predicted: Human,Mouse,Rat)
MFSD7 is a 560 amino acid multi-pass membrane protein that belongs to the major facilitator superfamily. Existing as three alternatively spliced isoforms, MFSD7 is likely a carrier that transports small solutes by using chemiosmotic ion gradients. Significantly, a related protein, MFSD2, may play a role in placenta morphogenesis and may also be involved in adaptive thermogenesis. The gene encoding MFSD7 maps to human chromosome 4, which encodes nearly 6% of the human genome and has the largest gene deserts (regions of the genome with no protein encoding genes) of all of the human chromosomes. Defects in some of the genes located on chromosome 4 are associated with Huntington's disease, Ellis-van Creveld syndrome, methylmalonic acidemia and polycystic kidney disease.