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- Table of Contents
Facts about Ataxin-2.
Human | |
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Gene Name: | ATXN2 |
Uniprot: | Q99700 |
Entrez: | 6311 |
Belongs to: |
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ataxin-2 family |
ataxin 2; ataxin 2); ataxin-2; ATX2spinocerebellar ataxia 2 (olivopontocerebellar ataxia 2, autosomal dominant; SCA2FLJ46772; Spinocerebellar ataxia type 2 protein; TNRC13; trinucleotide repeat containing 13; Trinucleotide repeat-containing gene 13 protein
Mass (kDA):
140.283 kDA
Human | |
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Location: | 12q24.12 |
Sequence: | 12; NC_000012.12 (111452214..111599676, complement) |
Expressed in the brain, heart, liver, skeletal muscle, pancreas and placenta. Isoform 1 is predominant in the brain and spinal cord. Isoform 4 is more abundant in the cerebellum. In the brain, broadly expressed in the amygdala, caudate nucleus, corpus callosum, hippocampus, hypothalamus, substantia nigra, subthalamic nucleus and thalamus.
Cytoplasm.
If you want to know how to use the ATXN2 gene marker, then read this article. Here, you will learn how to apply the ATXN2 marker in various applications and samples. You will also learn about the Boster Bio's gene infographics. This information is applicable for all scientists worldwide. The ATXN2 gene marker is available for purchase at Boster Bio.
ATXN2 is a neuronal protein that associates with free and membrane-bound ribosomes. Free ribosomes produce proteins inside the cell while membrane-bound ribosomes produce proteins for secretion. It is believed that ATXN2 may have a role in protein synthesis. Various biological processes are regulated by this protein.
The ATXN2 gene encodes a protein called ataxin-2, which contains a polyglutamine tract. Long polyglutamine tracts result in spinocerebellar ataxia-2, a type of olivopontocerebellar atrophy. The gene for ataxin-2 was identified at 12q24.1. ATXN2 associates with L-plastin, a type of ligand that promotes the accumulation of T-plastin in mammalian cells. Boster's anti-ATX2/ATXN2 markers have been validated for use in a variety of applications.
ATXN2 was expressed in brain homogenates from FTLD-TDP brains and normal controls. Representative immunoblot analyses were performed for ATXN2 and RPS6 as well as GAPDH and pTDP-43, two markers of the Golgi apparatus. The ATXN2 bands were highly correlated with RPS6 and PABP1.
The ATXN2 gene has been linked to FTLD and ALS. This gene is a moderator of the phenotype in these diseases. Boster Bio's anti-ATX2/ATXN2 markers are highly specific and can detect both ATXN1 and ATXN2.
ATXN2 is a protein associated with ribosomes that produce proteins for secretion from cells. It is also associated with free ribosomes, which produce proteins inside cells. This protein has many important functions. Here, we will discuss the benefits of using the ATXN2 marker. This protein is located in the cytoplasm and is widely expressed in normal human brains.
In our study, we evaluated the correlation between maximal saccade velocity and log-transformed SOD3 and CAT enzymatic activities. We found that maximal saccade velocity was not significantly correlated with the 1/(SOD3/CAT) quotient. Moreover, ET was not significantly correlated with the other parameters used in this study. This finding indicates that ATXN2 is an excellent biomarker for detecting atherosclerosis.
In addition, ATXN2 colocalizes with the ribosome in human brains. It may therefore affect the protein synthesis machinery and attenuate the toxicity of TDP-43 aggregates. Moreover, ATXN2 is associated with ALS. However, there are several limitations associated with the use of ATXN2 for diagnosis. In some cases, the gene may be responsible for neurotoxicity.
The ATXN2 gene contains CAG trinucleotide repeats. These repeats are made up of three DNA building blocks - cytosine, adenine, and guanine. The repeat occurs 22 times in the ATXN2 gene. Because the ATXN2 gene is highly transcribed, this amplification will be accurate. However, it is important to note that ATXN2 is a highly variable gene.
PMID: 8896555 by Pulst S.-M., et al. Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2.
PMID: 8896556 by Sanpei K., et al. Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT.