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Ataxin-2 rabbit pAb

CAT: 0855-ES1719-01Size: 50 µLDry Ice: NoHazardous: No
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Background
Ataxin 2 (ATXN2) Homo sapiens 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 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, neurodegener
Description
Ataxin 2 (ATXN2) Homo sapiens 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 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, neurodegener
UniProt
Q99700
Swiss Prot
Q99700
Reactivity
Human; Rat; Mouse
Immunogen
The antiserum was produced against synthesized peptide derived from human ATXN2. AA range:731-780
Clonality
Polyclonal
Source
Rabbit
Applications
WB; IHC; IF; ELISA
Concentration
1 mg/ml
Dilution
Western Blot: 1/500 - 1/2000. Immunohistochemistry: 1/100 - 1/300. ELISA: 1/20000. Not yet tested in other applications.
Molecular Weight
140kD
Storage Conditions
-20°C/1 year
Observed Molecular Weight
140kD
Fragment
IgG
Subcellular Location
Cytoplasm .
Other Product Names
ATXN2; ATX2; SCA2; TNRC13; Ataxin-2; Spinocerebellar ataxia type 2 protein; Trinucleotide repeat-containing gene 13 protein
Gene ID (Human)
6311

UniProtKB · Q99700

Ataxin-2

ATX2_HUMAN · Homo sapiens

View on UniProt ↗
Primary accession
Q99700
Review status
UniProtKB reviewed (Swiss-Prot)
Gene
ATXN2
Protein existence
1: Evidence at protein level
Organism
Homo sapiens (Human)
Taxonomy ID
9606
Alternative names
—
EC number
—
Processing
—
Secondary accessions
A6NLD4, Q24JQ7, Q6ZQZ7, Q99493
Protein keywords

Technical term

3D-structureProteomics identificationReference proteome

Coding sequence diversity

Alternative splicingTriplet repeat expansion

Disease

Amyotrophic lateral sclerosisNeurodegenerationParkinsonismSpinocerebellar ataxia

Cellular component

Cytoplasm

PTM

Isopeptide bondMethylationPhosphoproteinUbl conjugation

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