anti-ATXN7 抗体

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.

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检测方法
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克隆形成能力
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克隆
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100 μL
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ATXN7 抗原简介

蛋白简介

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.

Gene names and symbols associated with anti-Ataxin 7 (ATXN7) 抗体

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

Protein level used designations for anti-Ataxin 7 (ATXN7) 抗体

ataxin 7 , ataxin-7 , spinocerebellar ataxia type 7 protein , spinocerebellar ataxia 7 homolog , spinocerebellar ataxia type 7 protein homolog

GENE ID SPECIES
444398 Xenopus laevis
100127691 Xenopus (Silurana) tropicalis
6314 Homo sapiens
246103 Mus musculus
361015 Rattus norvegicus
416078 Gallus gallus
484701 Canis lupus familiaris
100519688 Sus scrofa
536833 Bos taurus
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