Preferred Name | Ataxin-2 [Chemical/Ingredient] | |
Synonyms |
ATXN2 Protein Ataxin-2 Protein Atx-2 Protein Spinocerebellar Ataxia Type 2 Protein SCA2 Protein Ataxin-2 |
|
ID |
http://purl.bioontology.org/ontology/NDFRT/N0000191940 |
|
altLabel |
ATXN2 Protein Ataxin-2 Protein Atx-2 Protein Spinocerebellar Ataxia Type 2 Protein SCA2 Protein Ataxin-2 |
|
cui |
C0968256 |
|
MESH DEFINITION |
A Poly(A) RNA-binding protein that negatively regulates EGFR ENDOCYTOSIS. An increased risk for developing AMYOTROPHIC LATERAL SCLEROSIS 13 is observed in patients who have more than 23 CAG repeats in the ATXN2 gene coding sequence. Larger CAG expansions in the ATXN2 gene occur in SPINOCEREBELLAR ATAXIA 2 patients. |
|
MESH DUI |
D000067698 |
|
MeSH name |
Ataxin-2 |
|
MESH UI |
M0394791 |
|
NDFRT kind |
INGREDIENT_KIND |
|
notation |
N0000191940 |
|
NUI |
N0000191940 |
|
prefLabel |
Ataxin-2 [Chemical/Ingredient] |
|
tui |
T116 T123 |
|
subClassOf |
Create mapping
Delete | Mapping To | Ontology | Source |
---|---|---|---|
http://purl.bioontology.org/ontology/MSHFRE/D000067698 | MSHFRE | CUI | |
http://purl.bioontology.org/ontology/MESH/D000067698 | MESH | CUI |