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ATXN7 产品

(Ataxin 7 (ATXN7))

Categories

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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Featured ATXN7 Categories

ATXN7 抗体

High quality antibodies with extensive validation data.

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Latest Publications for our ATXN7 Products

Fiszer, Wroblewska, Nowak, Krzyzosiak: "Mutant CAG Repeats Effectively Targeted by RNA Interference in SCA7 Cells." in: 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." in: 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." in: 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." in: Brain : a journal of neurology, Vol. 123 Pt 12, pp. 2519-30, (2000) (PubMed).

Synonyms and alternative names related to 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
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