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Rabbit Anti-MFSD8/FITC Conjugated antibody

SL18906R-FITC

Product Name: Anti-MFSD8/FITC Chinese Name: FITC标记的MFSD8蛋白抗体 Ceroid-lipofuscinosis neuronal protein 7; CLN7; Major facilitator superfamily domain- Alias: containing protein 8; MFSD8; MFSD8_HUMAN. Organism Species: Rabbit Clonality: Polyclonal React Species: Human,Mouse,Rat,Pig,Cow,Rabbit,Sheep, ICC=1:50-200IF=1:50-200 Applications: not yet tested in other applications. optimal dilutions/concentrations should be determined by the end user. Molecular weight: 57kDa Form: Lyophilized or Liquid Concentration: 1mg/ml immunogen: KLH conjugated synthetic peptide derived from human MFSD8 Lsotype: IgG Purification: affinity purified by Protein A Storage Buffer: 0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glycerol. Storewww.sunlongbiotech.com at -20 °C for one year. Avoid repeated freeze/thaw cycles. The lyophilized antibody is stable at room temperature for at least one month and for greater than a year Storage: when kept at -20°C. When reconstituted in sterile pH 7.4 0.01M PBS or diluent of antibody the antibody is stable for at least two weeks at 2-4 °C. 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 Product Detail: 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: May be a carrier that transport small solutes by using chemiosmotic ion gradients.

Subcellular Location: Lysosome membrane.

Tissue Specificity: Expressed at very low levels in all tissues tested.

DISEASE: Defects in MFSD8 are the cause of neuronal ceroid lipofuscinosis type 7 (CLN7) [MIM:610951]. 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.

Similarity: Belongs to the major facilitator superfamily.

Database links:

Entrez Gene: 256471 Human

Entrez Gene: 72175 Mouse

Entrez Gene: 361939 Rat

Omim: 611124 Human

SwissProt: Q8NHS3 Human

SwissProt:www.sunlongbiotech.com Q8BH31 Mouse

Unigene: 480701 Human

Important Note: This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.