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SEZ6L2 encodes a seizure-related protein that is localized on the cell surface. Zusätzlich bieten wir Ihnen SEZ6L2 Antikörper (15) und SEZ6L2 Proteine (7) und viele weitere Produktgruppen zu diesem Protein an.
SEZ6L2 can partially correct the cathepsin D (zeige CTSD ELISA Kits) hypersecretion.
These results provide an extensive ascertainment of the genetic variability of SEZ6L2 in human populations and do not support a major role for SEZ6L2 sequence variations in the susceptibility to autism spectrum disorders.
significant association between autism and a coding variant in the seizure-related gene SEZ6L2 gene; SEZ6L2 expression in human fetal brain was highest in post-mitotic cortical layers, hippocampus, amygdala, and thalamus
Sez6l2 is one of the auxiliary subunits of the AMPA (zeige GRIA3 ELISA Kits) receptor and acts as a scaffolding protein to link GluR1 (zeige GRIA1 ELISA Kits) to ADD. Furthermore, Sez6l2 overexpression upregulates ADD phosphorylation, whereas siRNA-mediated downregulation of Sez612 prevents ADD phosphorylation, suggesting that Sez6l2 modulates AMPA (zeige GRIA3 ELISA Kits)-ADD signal transduction.
Sez6l2 expression in mouse embryos was restricted to the spinal cord and brain
This gene encodes a seizure-related protein that is localized on the cell surface. The gene is located in a region of chromosome 16p11.2 that is thought to contain candidate genes for autism spectrum disorders (ASD), though there is no evidence directly implicating this gene in ASD. Increased expression of this gene has been found in lung cancers, and the protein is therefore considered to be a novel prognostic marker for lung cancer. Alternative splicing of this gene results in multiple transcript variants.
seizure 6-like protein 2
, type I transmembrane receptor (seizure-related protein)
, brain-specific receptor-like protein A
, seizure related 6 homolog-like 2