Target：MFSD8
Fields：Lysosome
Gene Name：MFSD8 CLN7
Protein Name：Major facilitator superfamily domain-containing protein 8 (Ceroid-lipofuscinosis neuronal protein 7)
Human Gene Id：256471
Human Swiss Prot No：Q8NHS3
Mouse Swiss Prot No：Q8BH31
Immunogen：Synthesized peptide derived from human protein . at AA range: 351-400
Specificity：MFSD8 Polyclonal Antibody detects endogenous levels of protein.
Formulation：Liquid in PBS containing 50% glycerol, and 0.02% sodium azide.
Source：Polyclonal, Rabbit,IgG
Dilution：WB 1:500-2000 ELISA 1:5000-20000
Purification：The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
Concentration：1 mg/ml
Storage Stability：-15°C to -25°C/1 year(Do not lower than -25°C)
Observed Band(KD)：56kD
Background： 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],
Function：disease:Defects in MFSD8 are the cause of neuronal ceroid lipofuscinosis type 7 (CLN7) [MIM:610951]. 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.,function:May be a carrier that transport small solutes by using chemiosmotic ion gradients .,similarity:Belongs to the major facilitator superfamily.,tissue specificity:Expressed at very low levels in all tissues tested.,
Subcellular Location：Lysosome membrane ; Multi-pass membrane protein . Sorting to lysosomes involves tyrosine- and/or dileucine-based motifs.
Expression：Expressed at very low levels in all tissues tested.
