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MLC1 Rabbit pAb
- 产品详情
- 实验流程
Application 
| IHC-P, IHC-F, IF |
|---|---|
| Primary Accession | Q15049 |
| Other Accession | Q15049 |
| Host | Rabbit |
| Clonality | Polyclonal |
| Calculated MW | 41141 Da |
| Physical State | Liquid |
| Immunogen | KLH conjugated synthetic peptide derived from human MLC1 |
| Epitope Specificity | 321-377/377 |
| Isotype | IgG |
| Purity | affinity purified by Protein A |
| Buffer | 0.01M TBS (pH7.4) with 1% BSA, 0.02% Proclin300 and 50% Glycerol. |
| SUBUNIT | Interacts with ATP1B1. Part of a complex containing ATP1B1, TRPV4, AQP4 and HEPACAM. |
| DISEASE | Defects in MLC1 are a cause of leukoencephalopathy megalencephalic with subcortical cysts (MLC) [MIM:604004]. MLC is a syndrome of cerebral leukoencephalopathy and megalencephaly characterized by ataxia, spasticity, seizures, delay in motor development and mild mental retardation. The brain appears swollen on magnetic resonance imaging, with diffuse white-matter abnormalities and the invariable presence of subcortical cysts in frontal and temporal lobes. |
| Important Note | This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications. |
| Background Descriptions | MLC1 is a 377 amino acid multi-pass membrane protein that may serve as a non-selective neuronal cation channel in brain. Mutant MLC1 proteins that show impaired folding have been corrected in vitro with the addition of a Ca(2+)-ATPase inhibitor, curcumin. Mutations in the gene encoding MLC1 is the cause of megalencephalic leukoencephalopathy with subcortical cysts, also known as van der Knaap disease, a rare syndrome characterized early in life by progressive brain destruction causing mental retardation and incoordination. Single nucleotide polymorphisms within the MLC1 gene may be associated with periodic catatonia, but there seems to be conflicting evidence on whether or not the gene is implicated in general schizophrenia. |
| Gene ID | 23209 |
|---|---|
| Other Names | LVM; MLC; VL; Kiaa0027-hp; WKL1; MLC1_HUMAN; MLC1; Megalencephalic leukoencephalopathy with subcortical cysts protein 1; KIAA0027; MLC1_MOUSE; modulator of VRAC current 1; megalencephalic leukoencephalopathy with subcortical cysts 1 |
| 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 | MLC1 (HGNC:17082) |
|---|---|
| Function | Transmembrane protein mainly expressed in brain astrocytes that may play a role in transport across the blood-brain and brain- cerebrospinal fluid barriers (PubMed:22328087). Regulates the response of astrocytes to hypo-osmosis by promoting calcium influx (PubMed:22328087). May function as regulatory protein of membrane protein complexes such as ion channels (Probable). |
| Cellular Location | Membrane; Multi-pass membrane protein. Cell membrane; Multi-pass membrane protein. Cytoplasm, perinuclear region. Endoplasmic reticulum |
| Tissue Location | Expressed in the brain, with highest levels found in the amygdala, nucleus caudatus, thalamus and hippocampus |
Research Areas
Application Protocols
Provided below are standard protocols that you may find useful for product applications.
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