Ataxin 2 anticorps

N° du produit ABIN7259314

Détail du produit anti-Ataxin 2 anticorps

Antigène: Ataxin 2 (ATXN2)

Reactivité: Humain, Souris, Rat

Hôte: Lapin

Clonalité: Polyclonal

Conjugué: Cet anticorp Ataxin 2 est non-conjugé

Application: Immunohistochemistry (IHC), Immunofluorescence (IF)

Attributs du produit: Polyclonal Antibody

Purification: Affinity purification

Immunogène: A synthetic peptide of human ATXN2

Isotype: IgG

Information d'application

Indications d'application: IHC 1:50-1:200 IF 1:50-1:200

Restrictions: For Research Use only

Stockage

Format: Liquid

Concentration: 1 mg/mL

Buffer: PBS with 0.02 % sodium azide, 50 % glycerol, pH 7.3

Agent conservateur: Sodium azide

Précaution d'utilisation: This product contains Sodium azide: a POISONOUS AND HAZARDOUS SUBSTANCE which should be handled by trained staff only.

Stock: -20 °C

Stockage commentaire: Store at -20°C. Avoid freeze / thaw cycles.

Détails sur Ataxin 2

Antigène: Ataxin 2 (ATXN2)

Autre désignation: ATXN2 (ATXN2 Produits)

Synonymes: anticorps ASL13, anticorps ATX2, anticorps SCA2, anticorps TNRC13, anticorps 9630045M23Rik, anticorps AW544490, anticorps Sca2, anticorps ATXN2, anticorps MGC115230, anticorps ataxin 2, anticorps ataxin 2 L homeolog, anticorps ATXN2, anticorps Atxn2, anticorps atxn2.L

Sujet: 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.

ID gène: 6311

UniProt: Q99700

Pathways: Ribonucleoprotein Complex Subunit Organization