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MFSD8 major facilitator superfamily domain containing 8

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]

Genomic context

Location:
4q28.2
Sequence:
Chromosome: 4; NC_000004.12 (127917805..127965984, complement)
Total number of exons:
13

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