| Cat.No.: | PE-1526 |
| Product Name: | Recombinant Human ATXN7, His-tagged |
| Product Overview: | Ataxin-7 (ATXN7) |
| Description: | 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. |
| Storage: | Store at 4℃ if entire vial will be used within 2-4 weeks. Store at -20℃ or -80℃ for longer periods of time. Avoid multiple freeze-thaw cycles. |
| Purity: | >90% |
| Species: | Human |
| Tag: | His |
| Expression System: | E. Coli or Yeast |
| Protein Length: | 892 amino acids |
| Warning: | This product is for research use only. Not for use in diagnostic or therapeutic procedures. |
| Gene Name: | ATXN7 ataxin 7 [ Homo sapiens ] |
| Gene ID NCBI: | 6314 |
| Synonyms: | ATXN7; ataxin 7; SCA7, spinocerebellar ataxia 7 (olivopontocerebellar atrophy with retinal degeneration); ataxin-7; ADCAII; OPCA3; spinocerebellar ataxia type 7 protein; SCA7; FLJ17787; |
| mRNA Refseq: | NM_000333 |
| Protein Refseq: | NP_000324 |
| MIM: | 607640 |
| UniProt ID: | O15265 |
| Chromosome Location: | 3p21.1-p12 |
| Function: | chromatin binding; protein binding; zinc ion binding; |
| Product Types | ||
| ◆ Cell Lines | ||
| CL-0020 | Human ATAD2 Knockout Cell Line 2bp deletion | Inquiry |
| CL-0021 | Human ATAD2B Knockout Cell Line 130bp insertion | Inquiry |
| CL-0022 | Human ATAD2B Knockout Cell Line 130bp insertion | Inquiry |
| ◆ Research Kits | ||
| EKIT-0021 | ATF2 (pT69/pT71) Transcription Factor Assay Kit | Inquiry |
| ◆ Extracts & Lysates | ||
| EL-0031 | Recombinant Human ATAD2 293 Cell Lysate | Inquiry |
| Related Gene / Proteins | |||
| ATAD2 | ATAT1 | ATF-6 | ATF1 |
| ATF2 | ATF4 | ATM | ATR |
| ATRX | ATXN3 | ATXN3L | ATXN7 |
| ATXN7L3 | |||
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