ATXN2 Rabbit pAb
$108.00 – $488.00
ATX2; SCA2; TNRC13
- Product Details
- Description
- Additional information
- More Offers
| Catalog No. | A16666 |
|---|---|
| Product Name | ATXN2 Rabbit pAb |
| Supplier Name | ABclonal, Inc. |
| Brand Name | Abclonal |
| Synonyms | ATX2; SCA2; TNRC13 |
| Gene Name | ATXN2 |
| Protein Name | ATXN2 |
| Uniprot/Swissprot ID | Q99700 |
| Entrez GeneID | 6311 |
| Clonality | Polyclonal |
| Source/Host | Rabbit |
| Applications | WB, IHC-P, IF/ICC |
| Reactivity | Human, Mouse, Rat |
| Conjugate | Unconjugated |
| Note | Products will be shipped from the warehouse in Massachusetts. Promotion is running from time to time. Welcome to send a request for quote to message@sydlabs.com. |
| Order Offline | Syd Labs, Inc. 4 Avenue E, Hopkinton, MA 01748 USA. Phone: 1-617-401-8149 Fax: 1-617-606-5019 Email: message@sydlabs.com |
Description
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.
Additional information
| Ship from Country | USA |
|---|---|
| Size | 20 ul, 100 ul, 200 ul, 50 ul |