immunoprecipitation (IP): 20-40 μg using mouse brain S1 cytosolic fraction indirect immunofluorescence: 10-20 μg/mL using mouse fibroblast NIH3T3 cell line microarray: suitable western blot: 2-4 μg/mL using whole extract of human kidney 293 cells expressing human Tal
The gene LRSAM1 (leucine-rich repeat and sterile a motif-containing protein 1) is mapped to human chromosome 9q33.3. The protein is predicted to contain a leucine-rich repeat (LRR), an ezrin-radixin-moezin (ERM) domain, a coiled-coil (CC) region, a SAM (sterile α motif) domain and a carboxyl-terminal C3HC4-type RING (really interesting new gene) finger domain.
Immunogeno
synthetic peptide encoding amino acids 5-21 located near the N-terminus of human Tal, conjugated to KLH. This sequence is identical in mouse and rat Tal.
Azioni biochim/fisiol
LRSAM1 (leucine-rich repeat and sterile a motif-containing protein 1) is an E3 ligase. It binds and ubiquitinates Tsg101 (tumor susceptibility gene 101), inactivating Tsg101-mediated sorting of epidermal growth factor receptors and viral proteins. It also protects cytoplasm from invasive pathogens by participating in ubiquitination associated with intracellular bacteria. Mutations in LRSAM1 are linked with Charcot-Marie-Tooth disease.
Stato fisico
Solution in 0.01 M phosphate buffered saline, pH 7.4, containing 15 mM sodium azide.
Tal, a Tsg101-specific E3 ubiquitin ligase, regulates receptor endocytosis and retrovirus budding.
Amit I, et al.
Genes & Development, 18(14), 1737-1752 (2004)
Application of targeted multi-gene panel testing for the diagnosis of inherited peripheral neuropathy provides a high diagnostic yield with unexpected phenotype-genotype variability.
Charcot-Marie-Tooth disease (CMT) is a clinically and genetically heterogeneous condition characterized by peripheral axon degeneration with subsequent motor and sensory deficits. Several CMT gene products function in endosomal sorting and trafficking to the lysosome, suggesting that defects in this cellular
Several species of pathogenic bacteria replicate within an intracellular vacuolar niche. Bacteria that escape into the cytosol are captured by the autophagic pathway and targeted for lysosomal degradation, representing a defense against bacterial exploitation of the host cytosol. Autophagic capture of
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