Search on: HUNTINGTIN PROTEIN 
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Descriptor English:   Huntingtin Protein 
Descriptor Spanish:   Proteína Huntingtina 
Descriptor Portuguese:   Proteína Huntingtina 
Synonyms English:   Huntington Disease Protein
IT15 Protein  
Tree Number:   D12.776.441
Definition English:   A protein that is highly expressed in the nervous system as well as other tissues; its size and structure vary due to polymorphisms. Expanded CAG TRINUCLEOTIDE REPEATS have been identified in the Huntingtin (HD) Gene of patients with HUNTINGTON DISEASE and are associated with abnormal PROTEIN AGGREGATES. Huntingtin interacts with proteins involved in a variety of gene expression and cellular processes; it is also essential for embryonic development. 
History Note English:   2017 
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:   56634 
Unique Identifier:   D000071058 

Occurrence in VHL: 		 

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