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ASTN2 encodes a protein that is expressed in the brain and may function in neuronal migration, based on functional studies of the related astrotactin 1 gene in human and mouse. Zusätzlich bieten wir Ihnen Astrotactin 2 Antikörper (51) und und viele weitere Produktgruppen zu diesem Protein an.
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ASTN2 localizes primarily to endocytic and autophagocytic vesicles in the cell soma and in subsets of dendritic spines
Our study suggests that the MEF2D (zeige MEF2D Proteine), PRDM16 (zeige PRDM16 Proteine) and ASTN2 genes from GWAS are associated with migraine susceptibility, especially migraine without aura (zeige AURKA Proteine) , among Chinese patients. It appears that there is no association with serotonin receptor (zeige HTR1B Proteine) related genes.
The findings of this study do not support a major role of ASTN2 variants in ADHD or its comorbid disorders respective aADHD associated personality traits.
Results present the structure of ASTN-2 consisting of a combination of polypeptide folds: a perforin (zeige PRF1 Proteine)-like domain, a minimal epidermal growth factor (zeige EGF Proteine)-like module, a unique form of fibronectin (zeige FN1 Proteine) type III domain and an annexin-like domain. Structural and biophysical data show that ASTN-2 binds inositol triphosphates, suggesting a mechanism for membrane recognition or secondary messenger regulation of its activity.
The expression of coding and non-coding genes with SAFB1 (zeige SAFB Proteine) cross-link sites was altered by SAFB1 (zeige SAFB Proteine) knockdown. The isoform-specific expression of neural cell adhesion molecule (zeige MCAM Proteine) (NCAM1 (zeige NCAM1 Proteine)) and ASTN2 was influenced by SAFB1 (zeige SAFB Proteine).
Study found a significant association of ASTN2 genetic variants with age at onset in Alzheimer's disease in two independent samples together with in silico analysis that demonstrated potential role of ASTN2 in the pathogenesis of the disease
3' terminal ASTN2 deletions are significantly enriched in males with neurodevelopmental disorders, but not in females.
Single nucleotide polymorphism in ASTN2 gene is associated with cognition disorders.
This study has defined the transmembrane topology of mouse Astn2 and shown that this protein undergoes a single intramembrane proteolytic cleavage in the second of two transmembrane segments.
These experiments suggest that Astn2, an endosomal membrane protein, modulates Planar cell polarity signaling.
ASTN2 regulates the levels of ASTN1 in the plasma membrane and that the release of neuronal adhesions to the glial fiber during neuronal locomotion involves the intracellular trafficking of ASTN1.
This gene encodes a protein that is expressed in the brain and may function in neuronal migration, based on functional studies of the related astrotactin 1 gene in human and mouse. A deletion at this locus has been associated with schizophrenia. Multiple transcript variants encoding different proteins have been found for this locus.
, astrotactin 2
, bM243L4.1 (astrotactin 2)
, bM264P11.1 (astrotactin 2)
, bM383P24.1 (astrotactin 2)
, bM423P8.1 (astrotactin 2)
, bM452J22.1 (novel protein)
, bM468K2.1 (astrotactin 2)
, astrotactin 2-like