MLC1 blocking peptide
MLC1 Antibody (C-term) Blocking Peptide
NCBI and Uniprot Product Information
NCBI Description
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]
Uniprot Description
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; Membrane protein, integral; Cell surface; Transporter
Chromosomal Location of Human Ortholog: 22q13.33
Cellular Component: 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
Biological Process: positive regulation of intracellular transport; protein oligomerization; regulation of response to osmotic stress; vesicle-mediated transport
Disease: Megalencephalic Leukoencephalopathy With Subcortical Cysts 1
Research Articles on MLC1
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Product Notes
The MLC1 mlc1 (Catalog #AAA9223898) is a Blocking Peptide and is intended for research purposes only. The product is available for immediate purchase. It is sometimes possible for the material contained within the vial of "MLC1, Blocking Peptide" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
All products in the AAA Biotech catalog are strictly for research-use only, and are absolutely not suitable for use in any sort of medical, therapeutic, prophylactic, in-vivo, or diagnostic capacity. By purchasing a product from AAA Biotech, you are explicitly certifying that said products will be properly tested and used in line with industry standard. AAA Biotech and its authorized distribution partners reserve the right to refuse to fulfill any order if we have any indication that a purchaser may be intending to use a product outside of our accepted criteria.Disclaimer
Though we do strive to guarantee the information represented in this datasheet, AAA Biotech cannot be held responsible for any oversights or imprecisions. AAA Biotech reserves the right to adjust any aspect of this datasheet at any time and without notice. It is the responsibility of the customer to inform AAA Biotech of any product performance issues observed or experienced within 30 days of receipt of said product. To see additional details on this or any of our other policies, please see our Terms & Conditions page.Item has been added to Shopping Cart
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