Pesquisa sobre: MFN=57068 
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Descritor Inglês:   C9orf72 Protein 
Descritor Espanhol:   Proteína C9orf72 
Descritor Português:   Proteína C9orf72 
Sinônimos Inglês:   Chromosome 9 Open Reading Frame 72 Protein  
Categoria:   D12.776.141
Definição Inglês:   A widely-expressed protein of approximately 400 to 500 amino acids. Its N-terminal region (DENN domain) interacts with RAB GTP-BINDING PROTEINS and may regulate AUTOPHAGY, as well as PROTEIN TRANSPORT to ENDOSOMES. Expansion of the GGGGCC hexanucleotide repeat in the first intron of the C9orf72 gene is associated with FRONTOTEMPORAL DEMENTIA with AMYOTROPHIC LATERAL SCLEROSIS (FTDALS1). 
Nota Histórica Inglês:   2018 
Qualificadores Permitidos Inglês:  
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
SE secretion ST standards
SD supply & distribution TU therapeutic use
TO toxicity UL ultrastructure
UR urine  
Número do Registro:   57068 
Identificador Único:   D000073885 

Ocorrência na BVS:
 
MEDLINE    

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