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MFN=57122
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DeCS
Descritor
Inglês
:
Fanconi Anemia Complementation Group N Protein
Descritor
Espanhol
:
Proteína del Grupo de Complementación N de la Anemia de Fanconi
Descritor
Português
:
Proteína do Grupo de Complementação N da Anemia de Fanconi
Sinônimos
Inglês
:
FANCN Protein
PALB2 Protein
Partner and Localizer of BRCA2 Protein
Categoria:
D12.776.313.953
D12.776.624.776.051
D12.776.660.323
Definição
Inglês
:
A
Fanconi anemia
complementation group protein that contains an N-terminal DNA-binding region and seven, C-terminal, WD REPEATS. It is an essential factor in
HOMOLOGOUS RECOMBINATION
DNA REPAIR
through its interactions with
BRCA2 PROTEIN
;
RAD51 RECOMBINASE
; and
BRCA1 PROTEIN
. It functions as a molecular scaffold to localize and stabilize these
proteins
at
homologous recombination
sites.
Mutations
in the PALB2 gene are associated with
FANCONI ANEMIA
complementation group N; type 3
PANCREATIC NEOPLASMS
; and susceptibility to
BREAST
CANCER.
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
ST
standards
SD
supply & distribution
TU
therapeutic use
TO
toxicity
UL
ultrastructure
UR
urine
Número do Registro:
57122
Identificador Único:
D000076164
Ocorrência na BVS
:
Similar:
DeCS