ATXN3
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Official Full Name
ataxin 3
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Overview
Machado-Joseph disease, also known as spinocerebellar ataxia-3, is an autosomal dominant neurologic disorder. The protein encoded by this gene contains (CAG)n repeats in the coding region, and the expansion of these repeats from the normal 13-36 to 68-79 is one cause of Machado-Joseph disease. There is a negative correlation between the age of onset and CAG repeat numbers. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. -
Synonyms
ATXN3; ataxin 3; Machado Joseph disease (spinocerebellar ataxia 3, olivopontocerebellar ataxia 3, autosomal dominant, ataxin 3) , MJD, SCA3; ataxin-3; ATX3; JOS; josephin; ataxin 3 variant h; ataxin 3 variant m; ataxin 3 variant ref; olivopontocerebellar;
- Recombinant Proteins
- Cell & Tissue Lysates
- Protein Pre-coupled Magnetic Beads
- Chicken
- Human
- Mouse
- Rat
- Zebrafish
- E. coli
- E.coli
- E.Coli or Yeast
- HEK293
- HEK293T
- In Vitro Cell Free System
- Mammalian Cell
- Mammalian cells
- Sf9 Insect Cell
- Wheat Germ
- C
- His
- DDK
- Flag
- GST
- His (Fc)
- Avi
- Myc
- MYC
- Myc|DDK
- N/A
- No tag
- Involved Pathway
- Protein Function
- Interacting Protein
ATXN3 involved in several pathways and played different roles in them. We selected most pathways ATXN3 participated on our site, such as Protein processing in endoplasmic reticulum, which may be useful for your reference. Also, other proteins which involved in the same pathway with ATXN3 were listed below. Creative BioMart supplied nearly all the proteins listed, you can search them on our site.
Pathway Name | Pathway Related Protein |
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Protein processing in endoplasmic reticulum | UBE2D1B;P4HB;HSP90AB1;CUL1B;DNAJC1;CRYAA;CRYAB;SEC13;NPLOC4 |
ATXN3 has several biochemical functions, for example, ATPase binding, Lys48-specific deubiquitinase activity, Lys63-specific deubiquitinase activity. Some of the functions are cooperated with other proteins, some of the functions could acted by ATXN3 itself. We selected most functions ATXN3 had, and list some proteins which have the same functions with ATXN3. You can find most of the proteins on our site.
Function | Related Protein |
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ATPase binding | ATP1B3;RAB4A;CHMP4A;ATP6V0A2B;ATPIF1;ATP6V0A1;PIH1D1;ALDOB;RALB |
Lys48-specific deubiquitinase activity | OTUD7B;ATXN3;YOD1 |
Lys63-specific deubiquitinase activity | CYLD;YOD1;ATXN3 |
identical protein binding | PCNA;APLP2;TTR;SCAND1;TRIM8;CLDN11;ORAI1;CLDN2;UGP2 |
omega peptidase activity | GGH;UCHL1;JOSD2;USP5;USP13;ATXN3L;UCHL5;APEH;ATXN3 |
protein binding | NGFR;MAP2K4;HGS;TXLNA;TRAF1;HLTF;NOA1;PHF8;MAP2K6 |
ubiquitin protein ligase binding | UBE2H;FZD6;TRIM37;SKI;UBXN6;ASB4;YWHAZ;FBXW7;UBE2V1 |
ubiquitin-specific protease activity | USP6;USP40;UCHL3;USP17L5;USP47;USP20;USP18;OTUD7B;OTULIN |
ATXN3 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 ATXN3 here. Most of them are supplied by our site. Hope this information will be useful for your research of ATXN3.
VCP; UBC; RAD23B
- Q&As
- Reviews
Q&As (6)
Ask a questionThe clinical manifestations of SCA3 include ataxia (especially limb motor coordination disorder), myoclonus, ocular muscle movement abnormalities, extrapyramidal symptoms, dysphagia, language disorder, etc. As the disease progresses, patients have more and more significant difficulties with walking, balance, and other movements.
ATXN3 protein is involved in many important cellular processes, including protein degradation, cell signaling, apoptosis, RNA metabolism, etc. It plays an important role in the regulation of cellular functions.
At present, there is no cure for SCA3, but some adjuvant therapies can be used to improve symptoms. Physical therapy, speech therapy and swallowing function training can improve the quality of life of patients. In addition, there are some studies on protein degradation pathways for abnormal aggregation of ATXN3 protein, but they are still in the experimental stage.
In addition to its association with SCA3, ATXN3 protein may also be associated with some other diseases. For example, studies have shown that ATXN3 protein is related to the occurrence and development of neurodegenerative diseases such as Parkinson's disease and Huntington's disease, but the specific mechanism needs to be further studied and verified.
SCA3 is caused by mutations in the ATXN3 gene that lead to excessive repeat of polyglutamine (PolyQ) sequences in ATXN3 protein. This abnormal expansion will cause abnormal ATXN3 protein folding and aggregation, leading to impaired cell function and eventually triggering SCA3 symptoms.
ATXN3 protein is associated with autodominant genetic disease Spinocerebellar Ataxia Type 3 (SCA3). SCA3 is a neurodegenerative disease characterized by ataxia, extrapyramidal symptoms, and motor neuron dysfunction.
Customer Reviews (3)
Write a reviewATXN3 is very catalytic active and shows excellent catalytic performance even at low concentrations.
ATXN3 detection method is sensitive and can detect trace amounts of protein, which is well suited for our study.
Using ATXN3, the reproducibility of my experiments is very good, which facilitates subsequent data analysis and experimental manipulation.
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