L1CAM
Gene Ontology Biological Process
Gene Ontology Cellular Component
CANX
Gene Ontology Biological Process
- antigen processing and presentation of exogenous peptide antigen via MHC class II [TAS]
- antigen processing and presentation of peptide antigen via MHC class I [TAS]
- cellular protein metabolic process [TAS]
- clathrin-mediated endocytosis [ISS]
- post-translational protein modification [TAS]
- protein N-linked glycosylation via asparagine [TAS]
- protein folding [TAS]
- protein secretion [TAS]
- synaptic vesicle endocytosis [ISS]
Gene Ontology Molecular Function
Affinity Capture-Western
An interaction is inferred when a bait protein is affinity captured from cell extracts by either polyclonal antibody or epitope tag and the associated interaction partner identified by Western blot with a specific polyclonal antibody or second epitope tag. This category is also used if an interacting protein is visualized directly by dye stain or radioactivity. Note that this differs from any co-purification experiment involving affinity capture in that the co-purification experiment involves at least one extra purification step to get rid of potential contaminating proteins.
Publication
Pathomechanistic characterization of two exonic L1CAM variants located in trans in an obligate carrier of X-linked hydrocephalus.
Mutations in the gene encoding the neural cell adhesion molecule L1CAM cause several neurological disorders collectively referred to as L1 syndrome. We report here a family case of X-linked hydrocephalus in which an obligate female carrier has two exonic L1CAM missense mutations in trans substituting amino acids in the first (p.W635C) or second (p.V768I) fibronectin-type III domains. We performed various ... [more]
Throughput
- Low Throughput
Curated By
- BioGRID