MECP2 mutants P302R,K304E,K305R,R306C,(R306H) do not bind NCoR/SMRT complex

Stable Identifier
Reaction [transition]
Homo sapiens
Locations in the PathwayBrowser
SVG |   | PPTX  | SBGN
Click the image above or here to open this reaction in the Pathway Browser
The layout of this reaction may differ from that in the pathway view due to the constraints in pathway layout

Missense mutations in the transcriptional repression domain of methyl-CpG-binding protein 2 (MECP2) abolish the binding ability of MECP2 to the nuclear receptor co-repressor (NCoR/SMRT) complex. Functionally tested Rett syndrome MECP2 mutants that are unable to bind to the NCoR/SMRT complex include MECP2 P302R, MECP2 K304E, MECP2 K305R and MECP2 R306C. The MECP2 R306H mutant has not been experimentally characterized but is a candidate member of this set of MET mutants, based on sequence similarity (Lyst et al. 2013, Ebert et al. 2013).

Literature References
PubMed ID Title Journal Year
23770565 Rett syndrome mutations abolish the interaction of MeCP2 with the NCoR/SMRT co-repressor

de Lima Alves, F, Kastan, NR, Guy, J, Greenberg, ME, Ekiert, R, Bird, A, Selfridge, J, Nowak, J, Ebert, DH, Robinson, ND, Merusi, C, Lyst, MJ, Rappsilber, J

Nat. Neurosci. 2013
23770587 Activity-dependent phosphorylation of MeCP2 threonine 308 regulates interaction with NCoR

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

Nature 2013
Normal reaction
Functional status

Loss of function of MECP2 mutants P302R,K304E,K305R,R306C,(R306H) [nucleoplasm]

Inferred From
Name Identifier Synonyms
Rett syndrome DOID:1206 Rett's disorder, cerebroatrophic hyperammonemia
Cite Us!