Gene Symbol | MFSD8 |
Entrez Gene ID | 256471 |
Full Name | major facilitator superfamily domain containing 8 |
Synonyms | CCMD,CLN7 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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]. |
Disorder MIM: | |
Disorder Html: | Ceroid lipofuscinosis, neuronal, 7, 610951 (3); Macular dystrophy with central cone involvement, 616170 (3) |