Product info:

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.

Alternative names:

ATXN2; ATX2; SCA2; TNRC13; ataxin-2

Species reactivity:

Human, Mouse, Rat

Host:

Rabbit

Cellular localisation:

Cytoplasm

Isotype:

IgG

Immunogen:

A synthetic peptide of human ATXN2

Positive control:

U-87MG, Mouse liver, Rat liver

AA Sequence:

Email info@sobekbio.com for sequence

Purification:

Affinity purification

Molecular weight:

Calculated MW: 27kDa/106kDa/109kDa/132kDa/140kDa Observed MW: 170kDa

Form:

Liquid

Applications:

Request info at info@sobekbio.com

Dilution:

WB 1:500 - 1:2000 IHC 1:50 - 1:200 IF 1:50 - 1:200

Storage buffer:

Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3.

Storage:

Store at 4°C short term. For long-term storage, aliquot and store at -20°C or below. Stable for 12 months at -20°C. Avoid repeated freeze-thaw cycles.

More info:

Email: info@sobekbio.com

Orders:

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