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Protein Page:
MFSD8 (human)

Overview
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: 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
Reference #:  Q8NHS3 (UniProtKB)
Gene Symbols: MFSD8
Molecular weight: 57,628 Da
Basal Isoelectric point: 6.41  Predict pI for various phosphorylation states
Select Structure to View Below

MFSD8

Protein Structure Not Found.


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Modification Sites and Domains  

Modification Sites in Parent Protein, Orthologs, and Isoforms  
 

Show Multiple Sequence Alignment


 LTP 

LTP: The number of records in which this modification site was determined using site-specific methods. SS methods include amino acid sequencing, site-directed mutagenesis, modification site-specific antibodies, specific MS strategies, etc.


 HTP 

HTP: The number of records in which this modification site was assigned using ONLY proteomic discovery-mode mass spectrometry.


       human

 
0 2 T17 QEPLLGDTPGSREWD
0 1 S54‑p FLSSVGFsVVMMSIW
0 1 Y63‑p VMMSIWPyLQKIDPT
0 1 Y134‑p PASHNKYyMLVARGL
  mouse

 
S18‑p EPLLGPGsPGSREWS
S55 FLSSVGFSIVIMSIW
Y64 VIMSIWPYLQKIDQT
Y135 PAAHNKYYMLIARGL
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