antibody

ATXN2 Antibody (N-Term)

MBS9216575

0.05 mL

165 USD

polyclonal

rabbit

nonconjugated

human, mouse

western blot, ELISA, enzyme immunoassay

Antibody

ATXN2 Antibody (N-Term)

[ATXN2]

[Purified Rabbit Polyclonal Antibody (Pab); Ataxin-2; Spinocerebellar ataxia type 2 protein; Trinucleotide repeat-containing gene 13 protein; ATXN2; ATX2; SCA2; TNRC13]

[ataxin-2 isoform 3; Ataxin-2; ataxin-2; ataxin 2; Spinocerebellar ataxia type 2 protein; Trinucleotide repeat-containing gene 13 protein]

[ATXN2]

[ATXN2; ATXN2; ATX2; SCA2; ASL13; TNRC13; ATX2; SCA2; TNRC13]

ATX2_HUMAN

Polyclonal

Ig

Rabbit

Human, Mouse

1006

This ATXN2 antibody is generated from a rabbit immunized with a KLH conjugated synthetic peptide between 321-355 amino acids from human ATXN2.

Purified polyclonal antibody supplied in PBS with 0.09% (W/V) sodium azide. This antibody is purified through a protein A column, followed by peptide affinity purification.

Maintain refrigerated at 2-8 degree C for up to 2 weeks. For long term storage store at -20 degree C in small aliquots to prevent freeze-thaw cycles.

Western Blot (WB), ELISA (EIA)

WB ~~ 1:2000

Western Blot (WB)

Antigen Source: Human. Cellular Location: Cytoplasm. Tissue Location: 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.

Immunogen: The immunogen is a KLH conjugated synthetic peptide between 321-355 amino acids from human ATXN2(uniprot-Q99700). The actual sequence is proprietary.

Cell Biology; Neuroscience

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

Pulst S.-M.,et al.Nat. Genet. 14:269-276(1996). Sanpei K.,et al.Nat. Genet. 14:277-284(1996). Ota T.,et al.Nat. Genet. 36:40-45(2004). Scherer S.E.,et al.Nature 440:346-351(2006). Imbert G.,et al.Nat. Genet. 14:285-291(1996).

858437832

NP_001297052.1

NM_001310123.1

Q99700

140283

Parkinsons Disease Pathway (705377)

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 protein is primarily localized to the Golgi apparatus, with deletion of the Golgi and endoplasmic reticulum signals resulting in abnormal subcellular localization. In addition, the N-terminal region contains a polyglutamine tract. 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. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2015]

ataxin-2: Involved in EGFR trafficking, acting as negative regulator of endocytic EGFR internalization at the plasma membrane. Defects in ATXN2 are the cause of spinocerebellar ataxia type 2 (SCA2); also known as olivopontocerebellar atrophy II (OPCA II or OPCA2). Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to cerebellum degeneration with variable involvement of the brainstem and spinal cord. SCA2 belongs to the autosomal dominant cerebellar ataxias type I (ADCA I) which are characterized by cerebellar ataxia in combination with additional clinical features like optic atrophy, ophthalmoplegia, bulbar and extrapyramidal signs, peripheral neuropathy and dementia. SCA2 is characterized by hyporeflexia, myoclonus and action tremor and dopamine-responsive parkinsonism. SCA2 is caused by expansion of a CAG repeat resulting in about 36 to 52 repeats in some patients. Longer expansions result in earlier the expansion, onset of the disease. Defects in ATXN2 are a cause of susceptibility to amyotrophic lateral sclerosis type 13 (ALS13). It is a neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. Death usually occurs within 2 to 5 years. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases. An increased risk for developing amyotrophic lateral sclerosis is seems to be conferred by CAG repeat intermediate expansions greater than 23 but below the threshold for developing spinocerebellar ataxia. Belongs to the ataxin-2 family. 4 isoforms of the human protein are produced by alternative splicing. Protein type: Translation; RNA-binding. Chromosomal Location of Human Ortholog: 12q24.1. Cellular Component: nucleoplasm; polysome; Golgi apparatus; membrane; perinuclear region of cytoplasm; stress granule; cytoplasm; trans-Golgi network; ribonucleoprotein complex. Molecular Function: protein C-terminus binding; protein binding; RNA binding; epidermal growth factor receptor binding. Biological Process: regulation of translation; stress granule assembly; negative regulation of multicellular organism growth; RNA metabolic process; neuromuscular process; cerebellar Purkinje cell differentiation; homeostasis of number of cells; cytoplasmic mRNA processing body assembly; neurite morphogenesis; negative regulation of receptor internalization; RNA transport. Disease: Parkinson Disease, Late-onset; Spinocerebellar Ataxia 2

0.05 mL

165 USD

0.2 mL

370