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You can also order by e-mail: info@biomol.com
Larger quantity required? Request bulk
You can also order by e-mail: info@biomol.com
Larger quantity required? Request bulk
This gene belongs to a group of genes that is associated with microsatellite-expansion diseases,... more
Product information "Anti-ATXN2"
This gene belongs to a group of genes that is associated with microsatellite-expansion diseases, a class of neurological and neuromuscular disorders caused by expansion of short stretches of repetitive DNA. The protein encoded by this gene has two globular domains near the N-terminus, one of which contains a clathrin-mediated trans-Golgi signal and an endoplasmic reticulum exit signal. The encoded cytoplasmic protein localizes to the endoplasmic reticulum and plasma membrane, is involved in endocytosis, and modulates mTOR signals, modifying ribosomal translation and mitochondrial function. The N-terminal region of the protein contains a polyglutamine tract of 14-31 residues that can be expanded in the pathogenic state to 32-200 residues. Intermediate length expansions of this tract increase susceptibility to amyotrophic lateral sclerosis, while long expansions of this tract result in spinocerebellar ataxia-2, an autosomal-dominantly inherited, neurodegenerative disorder. Genome-wide association studies indicate that loss-of-function mutations in this gene may be associated with susceptibility to type I diabetes, obesity and hypertension. Alternative splicing results in multiple transcript variants. Protein function: Involved in EGFR trafficking, acting as negative regulator of endocytic EGFR internalization at the plasma membrane. [The UniProt Consortium]
Keywords: | Anti-ATX2, Anti-ATXN2, Anti-Ataxin-2, Anti-Spinocerebellar ataxia type 2 protein, Anti-Trinucleotide repeat-containing gene 13 protein, ATXN2 Polyclonal Antibody |
Supplier: | Elabscience |
Supplier-Nr: | E-AB-66891 |
Properties
Application: | IHC, IF |
Antibody Type: | Polyclonal |
Conjugate: | No |
Host: | Rabbit |
Species reactivity: | human, mouse, rat |
Immunogen: | A synthetic peptide of human ATXN2 |
Database Information
KEGG ID : | K23625 | Matching products |
UniProt ID : | Q99700 | Matching products |
Gene ID | GeneID 6311 | Matching products |
Handling & Safety
Storage: | -20°C |
Shipping: | 4°C (International: -20°C) |
Caution
Our products are for laboratory research use only: Not for administration to humans!
Our products are for laboratory research use only: Not for administration to humans!
Information about the product reference will follow.
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