产品名称
MFSD8 Rabbit Polyclonal Antibody
蛋白名称
Major facilitator superfamily domain-containing protein 8 (Ceroid-lipofuscinosis neuronal protein 7)
存储缓冲液
Liquid in PBS containing 50% glycerol, and 0.02% New type preservative N.
Human Swissprot No.
Q8NHS3
Human Swissprot Link
https://www.uniprot.org/uniprotkb/Q8NHS3/entry
Mouse Swissprot No.
Q8BH31
Mouse Swissprot Link
http://www.uniprot.org/uniprot/Q8BH31
免疫原
Synthesized peptide derived from human protein . at AA range: 351-400
特异性
MFSD8 Polyclonal Antibody detects endogenous levels of protein.
稀释度
WB 1:500-2000 ELISA 1:5000-20000
宿主
Polyclonal, Rabbit,IgG
背景介绍
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],
组织表达
Expressed at very low levels in all tissues tested.
细胞定位
Lysosome membrane ; Multi-pass membrane protein . Sorting to lysosomes involves tyrosine- and/or dileucine-based motifs.
功能
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.,
纯化
The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
