Signal Transduction Antibodies 1
Anti-MLC1 Antibody (CAB12840)
- SKU:
- CAB12840
- Product Type:
- Antibody
- Reactivity:
- Human
- Reactivity:
- Mouse
- Host Species:
- Rabbit
- Isotype:
- IgG
- Antibody Type:
- Polyclonal Antibody
- Research Area:
- Signal Transduction
Description
Antibody Name: | Anti-MLC1 Antibody |
Antibody SKU: | CAB12840 |
Antibody Size: | 20uL, 50uL, 100uL |
Application: | WB |
Reactivity: | Human, Mouse |
Host Species: | Rabbit |
Immunogen: | A synthetic peptide corresponding to a sequence within amino acids 300 to the C-terminus of human MLC1 (NP_055981.1). |
Application: | WB |
Recommended Dilution: | WB 1:500 - 1:2000 |
Reactivity: | Human, Mouse |
Positive Samples: | SH-SY5Y |
Immunogen: | A synthetic peptide corresponding to a sequence within amino acids 300 to the C-terminus of human MLC1 (NP_055981.1). |
Purification Method: | Affinity purification |
Storage Buffer: | Store at -20'C. Avoid freeze / thaw cycles. Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3. |
Isotype: | IgG |
Sequence: | SYDV LLLL LLLV LLLQ AGLN TGTA IQCV RFKV SARL QGAS WDTQ NGPQ ERLA GEVA RSPL KEFD KEKA WRAV VVQM AQ |
Gene ID: | 23209 |
Uniprot: | Q15049 |
Cellular Location: | Cell membrane, Cytoplasm, Endoplasmic reticulum, Membrane, Multi-pass membrane protein, perinuclear region |
Calculated MW: | 37kDa/41kDa |
Observed MW: | 45kDa |
Synonyms: | MLC1, LVM, MLC, VL |
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. |
UniProt Protein Function: | 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. |
UniProt Protein Details: | Protein type:Cell surface; Membrane protein, integral; Membrane protein, multi-pass; 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 |
NCBI Summary: | 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 Code: | Q15049 |
NCBI GenInfo Identifier: | 20141590 |
NCBI Gene ID: | 23209 |
NCBI Accession: | Q15049.5 |
UniProt Secondary Accession: | Q15049,Q5JZ83, Q8TAG4, Q96RP5, Q9UGY8, B3KW61, B7Z659 |
UniProt Related Accession: | Q15049 |
Molecular Weight: | 41kDa |
NCBI Full Name: | Membrane protein MLC1 |
NCBI Synonym Full Names: | megalencephalic leukoencephalopathy with subcortical cysts 1 |
NCBI Official Symbol: | MLC1 |
NCBI Official Synonym Symbols: | VL; LVM; MLC |
NCBI Protein Information: | membrane protein MLC1 |
UniProt Protein Name: | Membrane protein MLC1 |
Protein Family: | Myosin |
UniProt Gene Name: | MLC1 |
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