MFSD8, Official Symbol MFSD8provided by HGNC Official Full Name major facilitator superfamily domain containing 8provided by HGNC Primary source HGNC:HGNC:28486 See related Ensembl:ENSG00000164073 MIM:611124; AllianceGenome:HGNC:28486 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as CCMD; CLN7 Summary 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] Expression Ubiquitous expression in skin (RPKM 4.9), thyroid (RPKM 4.1) and 25 other tissues See more Orthologs mouse all