Ataxin 1 anticorps (N-Term)

N° du produit ABIN5514519

Cet anticorps Lapin Polyclonal détecte spécifiquement Ataxin 1 dans WB. Il présente une réactivité envers Humain.

Aperçu rapide pour Ataxin 1 anticorps (N-Term) (ABIN5514519)

Antigène: Ataxin 1 (ATXN1)

Reactivité: Humain

Hôte: Lapin

Clonalité: Polyclonal

Conjugué: Cet anticorp Ataxin 1 est non-conjugé

Application: Western Blotting (WB)

Détail du produit anti-Ataxin 1 anticorps

Épitope: N-Term

Séquence: TAWLPGNPGG RGHGGGRHGP AGTSVELGLQ QGIGLHKALS TGLDYSPPSA

Purification: Affinity purified

Immunogène: The immunogen is a synthetic peptide directed towards the N terminal region of human ATXN1

Information d'application

Indications d'application: Optimal working dilution should be determined by the investigator.

Restrictions: For Research Use only

Stockage

Format: Liquid

Buffer: Liquid. Purified antibody supplied in 1x PBS buffer with 0.09 % (w/v) sodium azide and 2 % sucrose.

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: For short term use, store at 2-8°C up to 1 week. For long term storage, store at -20°C in small aliquots to prevent freeze-thaw cycles.

Détails sur Ataxin 1

Antigène: Ataxin 1 (ATXN1)

Autre désignation: ATXN1

Sujet: The autosomal dominant cerebellar ataxias (ADCA) are a heterogeneous group of neurodegenerative disorders characterized by progressive degeneration of the cerebellum, brain stem and spinal cord. Clinically, ADCA has been divided into three groups: ADCA types I-III. ADCAI is genetically heterogeneous, with five genetic loci, designated spinocerebellar ataxia (SCA) 1, 2, 3, 4 and 6, being assigned to five different chromosomes. ADCAII, which always presents with retinal degeneration (SCA7), and ADCAIII often referred to as the `pure' cerebellar syndrome (SCA5), are most likely homogeneous disorders. Several SCA genes have been cloned and shown to contain CAG repeats in their coding regions. ADCA is caused by the expansion of the CAG repeats, producing an elongated polyglutamine tract in the corresponding protein. The expanded repeats are variable in size and unstable, usually increasing in size when transmitted to successive generations. The function of the ataxins is not known. This locus has been mapped to chromosome 6, and it has been determined that the diseased allele contains 41-81 CAG repeats, compared to 6-39 in the normal allele, and is associated with spinocerebellar ataxia type 1 (SCA1). At least two transcript variants encoding the same protein have been found for this gene.

Alias Symbols: ATX1, SCA1, D6S504E

Protein Size: 815

ID gène: 6310

NCBI Accession: NM_000332, NP_000323

UniProt: P54253

Pathways: Synaptic Membrane