Rabbit anti-Human ATXN2 Polyclonal Antibody

Uniprot Id

Q99700

Target Species

Human

Target Name

ATXN2

Target Full Name

Ataxin-2

Target Function

Involved in EGFR trafficking, acting as negative regulator of endocytic EGFR internalization at the plasma membrane.

Target Involvement

Spinocerebellar ataxia 2 (SCA2); Amyotrophic lateral sclerosis 13 (ALS13)

Target Subcellular Location

Cytoplasm.

Target Protein Families

Ataxin-2 family

Target Tissue Specificity

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 cal

Target Research Area

Neuroscience

Target Synonyms

ASL13; Ataxin 2; Ataxin-2; ATX2_HUMAN; Atxn2; Olivopontocerebellar ataxia 2; autosomal dominant; SCA2; Spinocerebellar ataxia type 2 protein; TNRC13; Trinucleotide repeat containing 13; Trinucleotide repeat containing gene 13 protein; Trinucleotide repeat-containing gene 13 protein

Target Background

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.