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| Cat.No | ACP06223 | Target Name | MLC1 |
|---|---|---|---|
| Target Synonyms | KIAA0027; LVM; Megalencephalic leukoencephalopathy with subcortical cysts 1; Membrane protein MLC1; MLC; MLC1; MLC1_HUMAN; VL; WKL1 | Form | Lyophilized powder |
| Expression System | Custom Production. Please inquire and provide the desire expression system. | Protein Length | Partial |
| Purity | >85% (SDS-PAGE) | Storage Buffer | 5%-50% glycerol. Lyophilized powder form: the buffer before lyophilization is Tris/PBS-based buffer, 6% Trehalose, Liquid form: default storage buffer is Tris/PBS-based buffer, pH 8.0. |
| Target Species | Human | Uniprot ID | Q15049 |
|---|
Uniprot Id
Q15049
Target Species
Human
Target Name
MLC1
Target Full Name
Membrane protein MLC1
Target Function
Regulates the response of astrocytes to hypo-osmosis by promoting calcium influx.
Target Involvement
Leukoencephalopathy, megalencephalic, with subcortical cysts, 1 (MLC1)
Target Subcellular Location
Membrane; Multi-pass membrane protein. Cell membrane. Cytoplasm, perinuclear region. Endoplasmic reticulum.
Target Tissue Specificity
Expressed in the brain, with highest levels found in the amygdala, nucleus caudatus, thalamus and hippocampus.
Target Synonyms
KIAA0027; LVM; Megalencephalic leukoencephalopathy with subcortical cysts 1; Membrane protein MLC1; MLC; MLC1; MLC1_HUMAN; VL; WKL1
Target Background
The function of this gene product is unknown; however, homology to other proteins suggests that it may be an integral membrane transporter. Mutations in this gene have been associated with megalencephalic leukoencephalopathy with subcortical cysts, an autosomal recessive neurological disorder. Alternatively spliced transcript variants encoding different isoforms have been identified.
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