MFSD8 Rabbit pAb
MFSD8 Rabbit pAb
- 产品详情
- 实验流程
- 背景知识
Application
| IHC-P, IHC-F, IF |
|---|---|
| Primary Accession | Q8NHS3 |
| Reactivity | Mouse |
| Predicted | Rat, Pig, Human, Rabbit, Sheep |
| Host | Rabbit |
| Clonality | Polyclonal |
| Calculated MW | 57628 Da |
| Physical State | Liquid |
| Immunogen | KLH conjugated synthetic peptide derived from human MFSD8 |
| Epitope Specificity | 301-400/518 |
| Isotype | IgG |
| Purity | affinity purified by Protein A |
| Buffer | 0.01M TBS (pH7.4) with 1% BSA, 0.02% Proclin300 and 50% Glycerol. |
| SUBCELLULAR LOCATION | Lysosome membrane. |
| 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. |
| Important Note | This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications. |
| Background Descriptions | 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] |
| Gene ID | 256471 |
|---|---|
| Other Names | Major facilitator superfamily domain-containing protein 8, Ceroid-lipofuscinosis neuronal protein 7, MFSD8 {ECO:0000303|PubMed:17564970, ECO:0000312|HGNC:HGNC:28486} |
| Dilution | IHC-P=1:100-500,IHC-F=1:100-500,IF=1:100-500 |
| Storage | Store at -20 °C for one year. Avoid repeated freeze/thaw cycles. 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. |
For Research Use Only. Not For Use In Diagnostic Procedures.
| Name | MFSD8 {ECO:0000303|PubMed:17564970, ECO:0000312|HGNC:HGNC:28486} |
|---|---|
| Function | Outward-rectifying chloride channel involved in endolysosomal chloride homeostasis, membrane fusion and function. Conducts chloride currents up to hundreds of picoamperes. Regulates lysosomal calcium content by reducing the lysosomal membrane potential, thereby activating TRPML1 channel and further release of lysosomal calcium ions. Regulates the pH in endolysosomal compartments and may contribute to progressive acidification from endosome to lysosome. Permeable to other halides such as iodide and fluoride ions. |
| Cellular Location | Endosome membrane; Multi-pass membrane protein. Lysosome membrane; Multi-pass membrane protein. Note=Sorting to lysosomes involves dileucine-based motif |
| Tissue Location | Expressed at very low levels in all tissues tested. |
Research Areas
Application Protocols
Provided below are standard protocols that you may find useful for product applications.
BACKGROUND
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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