Search on: ATAXIN-2 
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Descriptor English:   Ataxin-2 
Descriptor Spanish:   Ataxina-2 
Descriptor Portuguese:   Ataxina-2 
Tree Number:   D12.776.157.725.452.125
D12.776.641.069.750
D12.776.660.075.750
D12.776.664.962.452.125
Definition English:   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. 
See Related English:   Spinocerebellar Ataxias
 
History Note English:   2016; use SCA2 PROTEIN (NM) 1996-2015 
Allowable Qualifiers English:  
AD administration & dosage AE adverse effects
AG agonists AN analysis
AI antagonists & inhibitors BI biosynthesis
BL blood CF cerebrospinal fluid
CS chemical synthesis CH chemistry
CL classification CT contraindications
DF deficiency DE drug effects
EC economics GE genetics
HI history IM immunology
IP isolation & purification ME metabolism
PK pharmacokinetics PD pharmacology
PH physiology PO poisoning
RE radiation effects SE secretion
ST standards SD supply & distribution
TU therapeutic use TO toxicity
UL ultrastructure UR urine
Record Number:   55986 
Unique Identifier:   D000067698 

Occurrence in VHL:
 

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