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Protein Page:
MFSD8 (human)

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. Note: This description may include information from UniProtKB.
Protein type: Membrane protein, integral; Membrane protein, multi-pass
Chromosomal Location of Human Ortholog: 4q28.2
Cellular Component: intracellular membrane-bound organelle; lysosomal membrane; nucleoplasm
Disease: Ceroid Lipofuscinosis, Neuronal, 7; Macular Dystrophy With Central Cone Involvement
Reference #:  Q8NHS3 (UniProtKB)
Alt. Names/Synonyms: Ceroid-lipofuscinosis neuronal protein 7; ceroid-lipofuscinosis, neuronal 7, late infantile; CLN7; major facilitator superfamily domain containing 8; Major facilitator superfamily domain-containing protein 8; MFSD8; MGC33302
Gene Symbols: MFSD8
Molecular weight: 57,628 Da
Basal Isoelectric point: 6.41  Predict pI for various phosphorylation states
Select Structure to View Below


Protein Structure Not Found.

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