Tel:
+49 (0)241 95 163 153
Fax:
+49 (0)241 95 163 155
E-Mail:
orders@anticorps-enligne.fr

ATXN7 Produits

(Ataxin 7 (ATXN7))

Catégories

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. This locus has been mapped to chromosome 3, and it has been determined that the diseased allele associated with spinocerebellar ataxia-7 contains 38-130 CAG repeats (near the N-terminus), compared to 7-17 in the normal allele. The encoded protein is a component of the SPT3/TAF9/GCN5 acetyltransferase (STAGA) and TBP-free TAF-containing (TFTC) chromatin remodeling complexes, and it thus plays a role in transcriptional regulation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2010].

antibodies-online.com est synonyme de produits de recherche de haute qualité. Cherchez, trouvez et commandez des outils avec des données de validation étendues, des images, des références. Notre service clientèle scientifique est toujours à votre disposition si vous avez des questions sur la sélection ou l'application de nos produits.

Catégories ATXN7 en vedette

ATXN7 Anticorps

High quality antibodies with extensive validation data.

ATXN7 recommandé Anticorps

Produit
Reactivity
Application
Validations
N° du produit
Quantité
Fiche technique
Reactivity Human
Application WB, ELISA, IHC, IF
Validations
  • (3)
N° du produit ABIN7144797
Quantité 100 μg
Fiche technique Fiche technique
Reactivity Human, Mouse, Rat
Application WB, ELISA, IHC, IF, ICC
Validations
  • (2)
N° du produit ABIN6260150
Quantité 100 μL
Fiche technique Fiche technique
Reactivity Human, Mouse
Application ELISA, IHC
Validations
  • (2)
N° du produit ABIN7254688
Quantité 200 μL
Fiche technique Fiche technique

ATXN7 recommandé Protéines

Produit
Reactivity
Source
Validations
N° du produit
Quantité
Fiche technique
Reactivity Human
Source Insect Cells
Validations
  • (1)
N° du produit ABIN3089905
Quantité 1 mg
Fiche technique Fiche technique
Reactivity Mouse
Source Insect Cells
Validations
  • (1)
N° du produit ABIN3136672
Quantité 1 mg
Fiche technique Fiche technique

Dernières publications sur nos produits ATXN7

Fiszer, Wroblewska, Nowak, Krzyzosiak: "Mutant CAG Repeats Effectively Targeted by RNA Interference in SCA7 Cells." dans: Genes, Vol. 7, Issue 12, (2016) (PubMed).

Mu, Lin, Chen, Sung, Bai, Jow: "The perinatal outcomes of asymptomatic isolated single umbilical artery in full-term neonates." dans: Pediatrics and neonatology, Vol. 49, Issue 6, pp. 230-3, (2009) (PubMed).

Yvert, Lindenberg, Picaud, Landwehrmeyer, Sahel, Mandel: "Expanded polyglutamines induce neurodegeneration and trans-neuronal alterations in cerebellum and retina of SCA7 transgenic mice." dans: Human molecular genetics, Vol. 9, Issue 17, pp. 2491-506, (2000) (PubMed).

Cancel, Duyckaerts, Holmberg, Zander, Yvert, Lebre, Ruberg, Faucheux, Agid, Hirsch, Brice: "Distribution of ataxin-7 in normal human brain and retina." dans: Brain : a journal of neurology, Vol. 123 Pt 12, pp. 2519-30, (2000) (PubMed).

Synonymes et noms alternatifs relatifs à ATXN7

ataxin 7 L homeolog (atxn7.L), ataxin 7 (atxn7), ataxin 7 (ATXN7), ataxin 7 (Atxn7), A430107N12Rik, ADCAII, AI627028, ataxin-7, MGC82940, OPCA3, RGD1562692, SCA7, Sca7

Protein level used designations for ATXN7

  • ataxin 7
  • ataxin-7
  • spinocerebellar ataxia type 7 protein
  • spinocerebellar ataxia 7 homolog
  • spinocerebellar ataxia type 7 protein homolog
Vous êtes ici:
Support technique