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ATXN7L2 Produits

(Ataxin 7-Like 2 (ATXN7L2))

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].

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Catégories ATXN7L2 en vedette

ATXN7L2 Anticorps

High quality antibodies with extensive validation data.

ATXN7L2 recommandé Anticorps

Produit
Reactivity
Application
Validations
N° du produit
Quantité
Fiche technique
Reactivity Human
Application WB, FACS
Validations
  • (2)
N° du produit ABIN655240
Quantité 400 μL
Fiche technique Fiche technique
Reactivity Human, Mouse, Rat
Application WB, ELISA
Validations
  • (1)
N° du produit ABIN6258382
Quantité 100 μL
Fiche technique Fiche technique
Reactivity Bat, Cow, Dog, Guinea Pig, Horse, Human, Monkey, Mouse, Pig, Rabbit, Rat
Application WB
Validations
  • (1)
N° du produit ABIN6743251
Quantité 100 μL
Fiche technique Fiche technique

ATXN7L2 recommandé Protéines

Produit
Reactivity
Source
Validations
N° du produit
Quantité
Fiche technique
Reactivity Human
Source Insect Cells
Validations
  • (1)
N° du produit ABIN3089587
Quantité 1 mg
Fiche technique Fiche technique

Synonymes et noms alternatifs relatifs à ATXN7L2

ataxin 7-like 2 (Atxn7l2), ataxin 7 like 2 (ATXN7L2), ataxin 7-like 2b (atxn7l2b), ataxin 7-like 2a (atxn7l2a), ataxin 7 like 2 (Atxn7l2), 2610528J18Rik, atxn7l2, RGD1307047, wu:fi32b11, wu:fi36e12, zgc:92454, zgc:136546

Protein level used designations for ATXN7L2

  • ataxin-7-like protein 2
  • mFLJ00381 protein
  • ataxin 7-like 1
  • ataxin 7-like 2
  • fi32b11
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