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

http://purl.bioontology.org/ontology/NDFRT/N0000169629

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