ATXN7 Protein, ataxin 7


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Official Full Name ataxin 7
Background 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]
Synonyms ATXN7; ataxin 7; SCA7; OPCA3; ADCAII; ataxin-7; spinocerebellar ataxia type 7 protein;
    • Species :
    • Human
    • Mouse
    • Source :
    • E.Coli or Yeast
    • Mammalian Cell
    • Tag :
    • His
    Species Cat.# Product name Source (Host) Tag Protein Length Price
    Human ATXN7-3690H Recombinant Human ATXN7, His-tagged E.Coli or Yeast His
    Mouse ATXN7-2198M Recombinant Mouse ATXN7 Protein Mammalian Cell His

    ATXN7 involved in several pathways and played different roles in them. We selected most pathways ATXN7 participated on our site, such as Chromatin modifying enzymes, Chromatin organization, HATs acetylate histones, which may be useful for your reference. Also, other proteins which involved in the same pathway with ATXN7 were listed below. Creative BioMart supplied nearly all the proteins listed, you can search them on our site.

    Pathway Name Pathway Related Protein
    Chromatin modifying enzymes RBBP7; CAPNS2; JADE1; USP22; COPRS; SMYD3; MBD3B; PHF8; KAT7; SUDS3
    Chromatin organization C3orf75; PADI2; JHDM1D; MCRS1; SMYD2; KDM1A; RBBP5; SMARCC1; PHF8; ELP3
    HATs acetylate histones ING4; ELP2; RUVBL2; C17orf81; KAT7B; EPC1; KAT8; VPS72; TADA2A; PHF20B

    ATXN7 has several biochemical functions, for example, chromatin binding, protein binding. Some of the functions are cooperated with other proteins, some of the functions could acted by ATXN7 itself. We selected most functions ATXN7 had, and list some proteins which have the same functions with ATXN7. You can find most of the proteins on our site.

    Function Related Protein
    chromatin binding GATA3; LDB1; SP140; SP3; PKN1; SMC1AL; TICRR; HHEX; HMGB4; FOXN4
    protein binding MAVS; NLGN4X; SPTSSA; POLE4; ITGB3B; LTBP2; POU3F2; FOXR1; CAV2; IGF1

    ATXN7 has direct interactions with proteins and molecules. Those interactions were detected by several methods such as yeast two hybrid, co-IP, pull-down and so on. We selected proteins and molecules interacted with ATXN7 here. Most of them are supplied by our site. Hope this information will be useful for your research of ATXN7.

    SORBS1; TAF10

    Einum, DD; Clark, AM; et al. A novel central nervous system-enriched spinocerebellar ataxia type 7 gene product. ARCHIVES OF NEUROLOGY 60:97-103(2003).
    Garden, GA; Libby, RT; et al. Polyglutamine-expanded ataxin-7 promotes non-cell-autonomous Purkinje cell degeneration and displays proteolytic cleavage in ataxic transgenic mice. JOURNAL OF NEUROSCIENCE 22:4897-4905(2002).

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