ATXN2 Analysis Services - Creative Biolabs

Identifying the normal function of ATXN2 is a necessary step to understand its molecular basis and pathogenic mechanism. Creative Biolabs provides one-stop ATXN2 analysis services to support your academic research.

Structure and Function of ATXN2

ATXN2 is a 140kD human basic protein with 25 exons located in the region of chromosome 12q23-24. The protein consists of 1312 amino acids, and more than 31 repeats of the CAG gene in exon 1 result in the clinical manifestation of spinocerebellar ataxia type 2. Although ATXN2 protein is commonly expressed in adult and embryonic tissues, it is highly expressed in nervous tissues, especially in the Purkinje cells of the cerebellum.

Fig.1 ATXN2. (McGurk, et al., 2021) Fig.1 Structure of the ATXN2 gene and mRNA.¹

ATXN2 has an acid region of 456 amino acids corresponding to exon 2 to 7 of the gene, forming the Lsm domain and the Lsm related domain (LsmAD). The Lsm domain is shared with proteins involved in post-transcriptional modification of RNA and is involved in regulatory processes. In addition, the PABPC1-interacting motif-2 (PAM2) and the ataxin-2 domain protein (A2D) near the carboxy-terminal region of ATXN2 are involved in RNA messenger stability and translation regulation.

ATXN2 Variants

ATXN2 is involved in key cellular processes, including messenger RNA maturation, translation regulation, calcium homeostasis, cytoskeleton reorganization and endocytosis. ATXN2 mutations, mainly phosphorylation and/or proteolytic cleavage mutations, produce neuronal inclusion bodies that alter normal protein function and cause toxic gain, leading to cell dysfunction and target cell death.

ATXN2 variants in exon-1	9bp duplication	Other ATXN2 SNPs
CAG repeats and two single nucleotide polymorphisms (SNPs) rs695871 and rs695872 were studies in model organisms have examined both the pathogenic effects of ATXN2 poly-Q tracts and the loss-of-function effects of ATXN2. Medium-length (29-33 CAG replicates) allele repeats were associated with an increased risk of amyotrophic lateral sclerosis (ALS) and Parkinson's disease.	phenotype modifier effect of the 9bp dup (c.109_117dupCGGAGCGGG), the mutation is in the IDR located in the N-terminus is modulators of phenotype variability in different neurodegenerative disease cohorts.	rs11065979 is associated with obesity and elevated blood pressure; rs10774625 is associated with elevated blood pressure and cardiovascular disease; rs653178 was associated with myocardial infarction, metabolic syndrome and other diseases; rs7137828 is associated with glaucoma;

Services Provided by Creative Biolabs

In healthy people, ATXN2 multisite lengths vary, with 22Q and 23Q being the most common variants that may affect cognitive ability in older adults. And shorter CAG amplifications increase the risk of a range of neurological disorders and are also linked to metabolic diseases such as diabetes and obesity. Therefore, it is very important to study the function and the possible pathogenic mechanism of different ATXN2 variants length and ATXN2 SNPs.

Our services can be customized to suit the specific needs of our clients, popular analysis services targeting ATXN2 include but not limited to the following:

Cat	Service
BSA122-1	ATXN2 Antibody Development
BSA122-2	ATXN2-KO Cell Line Construction
BSA122-3	ATXN2-KO/ Heterozygous Mice Model Construction
BSA122-4	ATXN2 Protein Expression
BSA122-5	ATXN2 Recombinant Mutants Protein Expression
BSA122-6	ATXN2 Sequence Assay
BSA122-7	ATXN2 Insulin Sensitivity/Resistance Analysis
BSA122-8	ATXN2 Western Blotting Assay
BSA122-9	ATXN2 Immunohistochemistry Assay
BSA122-10	ATXN2 Signaling Pathway Assay

We are committed to providing the highest quality of custom services and products at the most reasonable prices. Please feel free to contact us for more information and a formal quote.