Loss of phosphorylation of MECP2 at T308

Stable Identifier
R-HSA-9022535
Type
Pathway
Species
Homo sapiens
Compartment
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Missense mutations of methyl-CpG-binding protein 2 (MECP2) in the vicinity of its threonine T308 phosphorylation site can negatively affect the ability of MECP2 to be phosphorylated at T308 in response to neuronal membrane depolarization (neuronal activity) (Ebert et al. 2013).

Literature References
PubMed ID Title Journal Year
23770587 Activity-dependent phosphorylation of MeCP2 threonine 308 regulates interaction with NCoR

Ebert, DH, Gabel, HW, Robinson, ND, Kastan, NR, Hu, LS, Cohen, S, Navarro, AJ, Lyst, MJ, Ekiert, R, Bird, AP, Greenberg, ME

Nature 2013
Participants
Participant Of
Disease
Name Identifier Synonyms
Rett syndrome 1206 Rett's disorder, cerebroatrophic hyperammonemia
Cross References
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Created