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Descriptor English: Ataxin-2
Descriptor Spanish: Ataxina-2
Descriptor ataxina-2
Scope note: Una proteína que se une a la región 3' poliadenilada del ARNm que regula negativamente ENDOCITOSIS del EGFR (RECEPTOR DEL FACTOR DE CRECIMIENTO EPIDÉRMICO). Se observa un mayor riesgo de desarrollar ESCLEROSIS LATERAL AMIOTRÓFICA 13 en los pacientes que tienen más de 23 repeticiones CAG en la secuencia de codificación del gen de la ATXN2. En pacientes con ATAXIA ESPINOCEREBELOSA TIPO 2 hay expansiones CAG más largas en el gen de la ATXN2.
Descriptor Portuguese: Ataxina-2
Descriptor French: Ataxine-2
Entry term(s): ATXN2 Protein
Ataxin 2
Ataxin 2 Protein
Ataxin-2 Protein
Atx 2 Protein
Atx-2 Protein
Protein, ATXN2
Protein, Ataxin-2
Protein, Atx-2
Protein, SCA2
SCA2 Protein
Spinocerebellar Ataxia Type 2 Protein
Tree number(s): D12.776.157.725.452.125
D12.776.631.069.750
D12.776.660.075.750
D12.776.664.962.452.125
RDF Unique Identifier: https://id.nlm.nih.gov/mesh/D000067698
Scope note: 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.
Allowable Qualifiers: AD administration & dosage
AE adverse effects
AG agonists
AI antagonists & inhibitors
AN analysis
BI biosynthesis
BL blood
CF cerebrospinal fluid
CH chemistry
CL classification
CS chemical synthesis
DE drug effects
DF deficiency
EC economics
GE genetics
HI history
IM immunology
IP isolation & purification
ME metabolism
PD pharmacology
PH physiology
PK pharmacokinetics
PO poisoning
RE radiation effects
SD supply & distribution
ST standards
TO toxicity
TU therapeutic use
UL ultrastructure
UR urine
Previous Indexing: Nerve Tissue Proteins (2005-2015)
Proteins (1996-2005)
Public MeSH Note: 2016; ATAXIN-2 was indexed under PROTEINS 1996-2005, and under NERVE TISSUE PROTEINS 2005-2015
History Note: 2016; use SCA2 PROTEIN (NM) 1996-2015
Related: Spinocerebellar Ataxias MeSH
DeCS ID: 55986
Unique ID: D000067698
Documents indexed in the Virtual Health Library (VHL): Click here to access the VHL documents
Date Established: 2016/01/01
Date of Entry: 2015/07/06
Revision Date: 2015/11/23
Ataxin-2 - Preferred
Concept UI M0394791
Scope note 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.
Preferred term Ataxin-2
Entry term(s) ATXN2 Protein
Ataxin 2
Ataxin 2 Protein
Ataxin-2 Protein
Atx 2 Protein
Atx-2 Protein
Protein, ATXN2
Protein, Ataxin-2
Protein, Atx-2
Protein, SCA2
SCA2 Protein
Spinocerebellar Ataxia Type 2 Protein



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