基因名称(Gene Name)
MFSD8 CLN7
蛋白名称
Major facilitator superfamily domain-containing protein 8 (Ceroid-lipofuscinosis neuronal protein 7)
免疫原
Synthesized peptide derived from human protein . at AA range: 351-400
特异性
MFSD8 Monoclonal Antibody detects endogenous levels of protein.
组成
Liquid in PBS containing 50% glycerol, and 0.02% sodium azide.
纯化工艺
The antibody was affinity-purified from mouse antiserum by affinity-chromatography using epitope-specific immunogen.
其他名称
HPSE; HEP; HPA; HPA1; HPR1; HPSE1; HSE1; Heparanase; Endo-glucoronidase; Heparanase-1; Hpa1
背景
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],
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.,
