Species Human Entrez 256471 | Human Mouse Ensembl ENSG00000164073 | |
Aliases MFSD8, CLN7, CCMD, major facilitator superfamily domain containing 8 External IDs MGI: 1919425 HomoloGene: 115814 GeneCards: MFSD8 | ||
Major facilitator superfamily domain containing 8 also known as MFSD8 is a protein that in humans is encoded by the MFSD8 gene.
Contents
Function
MFSD8 is a ubiquitous integral membrane protein that contains a transporter domain and a major facilitator superfamily (MFS) domain. Other members of the major facilitator superfamily transport small solutes through chemiosmotic ion gradients. The substrate transported by this protein is unknown. The protein likely localizes to lysosomal membranes.
Clinical significance
Mutations in the MFSD8 gene have been associated with neuronal ceroid lipofuscinosis.
References
MFSD8 Wikipedia(Text) CC BY-SA