Aliases for MFSD8 Gene
External Ids for MFSD8 Gene
Previous HGNC Symbols for MFSD8 Gene
Previous GeneCards Identifiers for MFSD8 Gene
This gene encodes 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. Mutations in this gene are correlated with a variant form of late infantile-onset neuronal ceroid lipofuscinoses (vLINCL). [provided by RefSeq, Oct 2008]
GeneCards Summary for MFSD8 Gene
MFSD8 (Major Facilitator Superfamily Domain Containing 8) is a Protein Coding gene. Diseases associated with MFSD8 include Ceroid Lipofuscinosis, Neuronal, 7 and Macular Dystrophy With Central Cone Involvement. Among its related pathways are Lysosome. Gene Ontology (GO) annotations related to this gene include transmembrane transporter activity. An important paralog of this gene is ENSG00000283761.
UniProtKB/Swiss-Prot Summary for MFSD8 Gene
May be a carrier that transport small solutes by using chemiosmotic ion gradients.