Search on: ATAXINS 
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Descriptor English:   Ataxins 
Descriptor Spanish:   Ataxinas 
Descriptor Portuguese:   Ataxinas 
Synonyms English:   Ataxia Proteins, Spinocerebellar
Ataxin Proteins
Proteins, Ataxin
Proteins, Spinocerebellar Ataxia
Spinocerebellar Ataxia Proteins  
Tree Number:   D12.776.631.069
Definition English:   A family of predominantly nuclear proteins that regulate gene transcription and protein degradation. The expansion of CAG trinucleotide repeats in genes that encode Ataxins is associated with SPINOCEREBELLAR ATAXIAS (SCA). In SCA patients, the number of CAG repeats correlates with the severity of disease and inversely correlates with the age of disease onset. 
See Related English:   Spinocerebellar Ataxias
History Note English:   2016 
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 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
ST standards SD supply & distribution
TU therapeutic use TO toxicity
UL ultrastructure UR urine
Record Number:   56001 
Unique Identifier:   D000067528 

Occurrence in VHL: