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Descriptor English: C9orf72 Protein
Descriptor Spanish: Proteína C9orf72
Descriptor proteína C9orf72
Entry term(s) factor de intercambio de nucleótidos de guanina C9orf72
proteína 72 del marco de lectura abierta del cromosoma 9
Scope note: 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).
Descriptor Portuguese: Proteína C9orf72
Descriptor French: Protéine C9orf72
Entry term(s): Chromosome 9 Open Reading Frame 72 Protein
Guanine Nucleotide Exchange Factor C9orf72
Tree number(s): D12.644.360.325.300.025
D12.776.476.325.300.025
RDF Unique Identifier: https://id.nlm.nih.gov/mesh/D000073885
Scope note: 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).
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: Guanine Nucleotide Exchange Factors (2016-2017)
Proteins (2011-2017)
Public MeSH Note: 2018
History Note: 2018
DeCS ID: 57068
Unique ID: D000073885
Documents indexed in the Virtual Health Library (VHL): Click here to access the VHL documents
Date Established: 2018/01/01
Date of Entry: 2017/07/11
Revision Date: 2017/01/17
C9orf72 Protein - Preferred
Concept UI M000624208
Scope note 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).
Preferred term C9orf72 Protein
Entry term(s) Chromosome 9 Open Reading Frame 72 Protein
Guanine Nucleotide Exchange Factor C9orf72



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