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Ataxin 7 (ATXN7)

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SCA7; OPCA3; ADCAII; Spinocerebellar Ataxia 7; Olivopontocerebellar Atrophy With Retinal Degeneration

Ataxin 7 (ATXN7)
CCC D249
HGNC 10560
MGI 2179277
PubMed 23100044
RGD 1562692
UniProt O15265
Wiki ATXN7
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.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Ataxin 7 (ATXN7) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Ataxin 7 (ATXN7) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Ataxin 7 (ATXN7) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Ataxin 7 (ATXN7) CLIA Kit Customized Service Offer
n/a ELISA Kit for Ataxin 7 (ATXN7) ELISA Kit Customized Service Offer

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Ataxin 7 (ATXN7) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Ataxin 7 (ATXN7) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Ataxin 7 (ATXN7) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Ataxin 7 (ATXN7) CLIA Kit Customized Service Offer
n/a ELISA Kit for Ataxin 7 (ATXN7) ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Ataxin 7 (ATXN7) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Ataxin 7 (ATXN7) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Ataxin 7 (ATXN7) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Ataxin 7 (ATXN7) CLIA Kit Customized Service Offer
n/a ELISA Kit for Ataxin 7 (ATXN7) ELISA Kit Customized Service Offer
  1. "Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion."Nat. Genet. 17:65-70(1997) [PubMed] [Europe PMC] [Abstract]
  2. "Molecular genetic analysis of autosomal dominant cerebellar ataxia with retinal degeneration (ADCA type II) caused by CAG triplet repeat expansion."Hum. Mol. Genet. 7:177-186(1998) [PubMed] [Europe PMC] [Abstract]
  3. "Complete sequencing and characterization of 21,243 full-length human cDNAs." Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
  4. "The DNA sequence, annotation and analysis of human chromosome 3." Nature 440:1194-1198(2006) [PubMed] [Europe PMC] [Abstract]
  5. "A novel central nervous system-enriched spinocerebellar ataxia type 7 gene product."Arch. Neurol. 60:97-103(2003) [PubMed] [Europe PMC] [Abstract]
  6. "Nuclear localization of the spinocerebellar ataxia type 7 protein, ataxin-7."Hum. Mol. Genet. 8:1657-1664(1999) [PubMed] [Europe PMC] [Abstract]
  7. "Ataxin-7 interacts with a Cbl-associated protein that it recruits into neuronal intranuclear inclusions."Hum. Mol. Genet. 10:1201-1213(2001) [PubMed] [Europe PMC] [Abstract]
  8. "Association of ataxin-7 with the proteasome subunit S4 of the 19S regulatory complex."Hum. Mol. Genet. 10:2821-2831(2001) [PubMed] [Europe PMC] [Abstract]
  9. "Ataxin-7 is a subunit of GCN5 histone acetyltransferase-containing complexes."Hum. Mol. Genet. 13:1257-1265(2004) [PubMed] [Europe PMC] [Abstract]
  10. "Polyglutamine-expanded ataxin-7 inhibits STAGA histone acetyltransferase activity to produce retinal degeneration."Proc. Natl. Acad. Sci. U.S.A. 102:8472-8477(2005) [PubMed] [Europe PMC] [Abstract]
  11. "Ataxin-7 can export from the nucleus via a conserved exportin-dependent signal."J. Biol. Chem. 281:2730-2739(2006) [PubMed] [Europe PMC] [Abstract]
  12. "A TFTC/STAGA module mediates histone H2A and H2B deubiquitination, coactivates nuclear receptors, and counteracts heterochromatin silencing."Mol. Cell 29:92-101(2008) [PubMed] [Europe PMC] [Abstract]
  13. "SUMOylation attenuates the aggregation propensity and cellular toxicity of the polyglutamine expanded ataxin-7."Hum. Mol. Genet. 19:181-195(2010) [PubMed] [Europe PMC] [Abstract]
  14. "Ataxin-7 associates with microtubules and stabilizes the cytoskeletal network."Hum. Mol. Genet. 21:1099-1110(2012) [PubMed] [Europe PMC] [Abstract]