Membrane Protein MLC1 (MLC1), ELISA Kit

For Research Use Only. Not for use in diagnostic procedures.

Store all reagents at 2-8 degree C

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Small volumes of MLC1 elisa kit vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.

MBS9369800 is a ready-to-use microwell, strip-or-full plate ELISA (enzyme-linked immunosorbent assay) Kit for analyzing the presence of the Membrane Protein MLC1 (MLC1) ELISA Kit target analytes in biological samples. The concentration gradients of the kit standards or positive controls render a theoretical kit detection range in biological research samples containing MLC1. The ELISA analytical biochemical technique of the MBS9369800 kit is based on MLC1 antibody-MLC1 antigen interactions (immunosorbency) and an HRP colorimetric detection system to detect MLC1 antigen targets in samples. The ELISA Kit is designed to detect native, not recombinant, MLC1. Appropriate sample types may include undiluted body fluids and/or tissue homogenates, secretions. Quality control assays assessing reproducibility identified the intra-assay CV (%) and inter-assay CV(%).

37,974 Da

megalencephalic leukoencephalopathy with subcortical cysts 1

membrane protein MLC1

Membrane protein MLC1

KIAA0027; WKL1  [Similar Products]

MLC1_HUMAN

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. [provided by RefSeq, Jul 2008]

MLC1: Regulates the response of astrocytes to hypo-osmosis by promoting calcium influx. Defects in MLC1 are a cause of leukoencephalopathy megalencephalic with subcortical cysts type 1 (MLC1). MLC1 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.

Protein type: Membrane protein, multi-pass; Cell surface; Membrane protein, integral; Transporter

Chromosomal Location of Human Ortholog: 22q13.33

Cellular Component: apical plasma membrane; basolateral plasma membrane; caveola; clathrin-coated vesicle; cytoplasm; cytoplasmic vesicle; early endosome; endoplasmic reticulum; endosome; integral to membrane; lipid raft; lysosome; perinuclear region of cytoplasm; plasma membrane; recycling endosome

Molecular Function: protein binding; protein complex binding; protein transporter activity; transporter activity

Biological Process: ion transport; positive regulation of intracellular transport; protein oligomerization; protein transport; regulation of response to osmotic stress; transport; vesicle-mediated transport

Disease: Megalencephalic Leukoencephalopathy With Subcortical Cysts 1

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