MFSD8

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]

Description

Major facilitator superfamily domain containing 8

Tissue specificity

Low tissue specificity

Subcell location

Nucleoplasm, Vesicles

Predicted location

Membrane

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Potential drug targets
Predicted membrane proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)
Transporters

Chromosome

4 (127917799 - 127966034)

Ensembl ID

ENSG00000164073  (ver. 103.38)

Orthologs

Mouse Mfsd8: ENSMUSG00000025759

UniProt

Q8NHS3

neXtProt

NX_Q8NHS3

Human splice variants
Mouse splice variants

Protein structure