Pesquisa
Descritor em português: Proteína C9orf72
Descritor em inglês: C9orf72 Protein
Descritor em espanhol: Proteína C9orf72
Descritor proteína C9orf72
Termo(s) alternativo(s) factor de intercambio de nucleótidos de guanina C9orf72
proteína 72 del marco de lectura abierta del cromosoma 9
Nota de escopo: Factor de intercambio de nucleótidos de guanina proteínico, que se expresa ampliamente y consta de 400 a 500 aminoácidos aproximadamente. Su región N-terminal (dominio DENN) interactúa con las PROTEÍNAS DE UNIÓN AL GTP RAB y puede regular la AUTOFAGIA y el TRANSPORTE DE PROTEÍNAS a los ENDOSOMAS. La expansión de la repetición del hexanucleótido GGGGCC en el primer intrón del gen C9orf72 se asocia a DEMENCIA FRONTOTEMPORAL con ESCLEROSIS LATERAL AMIOTRÓFICA (FTDALS1).
Descritor em francês: Protéine C9orf72
Termo(s) alternativo(s): Chromosome 9 Open Reading Frame 72 Protein
Guanine Nucleotide Exchange Factor C9orf72
Código(s) hierárquico(s): D12.644.360.325.300.025
D12.776.476.325.300.025
Identificador Único RDF: https://id.nlm.nih.gov/mesh/D000073885
Nota de escopo: A widely-expressed guanine nucleotide exchange factor 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).
Qualificadores permitidos: 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
Indexação Anterior: Guanine Nucleotide Exchange Factors (2016-2017)
Proteins (2011-2017)
Nota MeSH pública: 2018
Nota histórica: 2018
Identificador DeCS: 57068
ID do descritor: D000073885
Documentos indexados na Biblioteca Virtual em Saúde (BVS): Clique aqui para acessar os documentos da BVS
Data de estabelecimento: 01/01/2018
Data de entrada: 11/07/2017
Data de revisão: 17/01/2017
C9orf72 Protein - Conceito preferido
Identificador do conceito M000624208
Nota de escopo A widely-expressed guanine nucleotide exchange factor 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).
Termo preferido C9orf72 Protein
Termo(s) alternativo(s) Chromosome 9 Open Reading Frame 72 Protein
Guanine Nucleotide Exchange Factor C9orf72



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