NP_689991.1
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
17,092 Da
NCBI Official Full Name
major facilitator superfamily domain-containing protein 8
NCBI Official Synonym Full Names
major facilitator superfamily domain containing 8
NCBI Official Synonym Symbols
NCBI Protein Information
major facilitator superfamily domain-containing protein 8
UniProt Protein Name
Major facilitator superfamily domain-containing protein 8
UniProt Synonym Protein Names
Ceroid-lipofuscinosis neuronal protein 7
UniProt Synonym Gene Names
UniProt Entry Name
MFSD8_HUMAN
NCBI Summary for 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]
UniProt Comments for MFSD8
MFSD8: May be a carrier that transport small solutes by using chemiosmotic ion gradients (Potential). Defects in MFSD8 are the cause of neuronal ceroid lipofuscinosis type 7 (CLN7). A form of late infantile neuronal ceroid lipofuscinosis. CNL are a clinically and genetically heterogeneous group of neurodegenerative disorders characterized by the intracellular accumulation of autofluorescent lipopigment storage material in different patterns ultrastructurally. The patterns most often observed CLN7 are mixed combinations of granular, curvilinear, fingerprint, and rectilinear profiles. The clinical course includes progressive dementia, seizures, and progressive visual failure. Belongs to the major facilitator superfamily.
Protein type: Membrane protein, multi-pass; Membrane protein, integral
Chromosomal Location of Human Ortholog: 4q28.2
Cellular Component: integral to membrane; intracellular membrane-bound organelle; lysosomal membrane; nucleoplasm
Biological Process: lysosome organization and biogenesis; transmembrane transport
Disease: Ceroid Lipofuscinosis, Neuronal, 7; Macular Dystrophy With Central Cone Involvement
Research Articles on MFSD8
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Products associated with anti-MFSD8 antibody
Pathways associated with anti-MFSD8 antibody
Diseases associated with anti-MFSD8 antibody
Organs/Tissues associated with anti-MFSD8 antibody
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