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MECP2 R306H [nucleoplasm]
Stable Identifier
R-HSA-9005555
Type
Set [CandidateSet]
Species
Homo sapiens
Compartment
nucleoplasm
Locations in the PathwayBrowser
Expand all
Disease (Homo sapiens)
Disorders of Developmental Biology (Homo sapiens)
Disorders of Nervous System Development (Homo sapiens)
Pervasive developmental disorders (Homo sapiens)
Loss of function of MECP2 in Rett syndrome (Homo sapiens)
Loss of MECP2 binding ability to the NCoR/SMRT complex (Homo sapiens)
MECP2 mutants P302R,K304E,K305R,R306C,(R306H) do not bind NCoR/SMRT complex (Homo sapiens)
MECP2 mutants P302R,K304E,K305R,R306C,(R306H) [nucleoplasm] (Homo sapiens)
MECP2 R306H [nucleoplasm] (Homo sapiens)
Loss of phosphorylation of MECP2 at T308 (Homo sapiens)
Active PKA, CaMK IV do not phosphorylate MECP2 mutants R306C,(R306H) at T308 (Homo sapiens)
MECP2 mutants R306C,(R306H) [nucleoplasm] (Homo sapiens)
MECP2 R306H [nucleoplasm] (Homo sapiens)
Participants
members
MECP2_e2 R306H [nucleoplasm]
(Homo sapiens)
candidates
MeCP2_e1 R318H [nucleoplasm]
(Homo sapiens)
Participates
as a candidate of
MECP2 mutants R306C,(R306H) [nucleoplasm] (Homo sapiens)
MECP2 mutants P302R,K304E,K305R,R306C,(R306H) [nucleoplasm] (Homo sapiens)
Disease
Name
Identifier
Synonyms
Rett syndrome
DOID:1206
Rett's disorder, cerebroatrophic hyperammonemia
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