Reactome | MECP2 R133C [nucleoplasm]

MECP2 R133C [nucleoplasm]

Stable Identifier

R-HSA-9022487

Type

Set [CandidateSet]

Species

Homo sapiens

Compartment

nucleoplasm

Locations in the PathwayBrowser

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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 5hmC-DNA (Homo sapiens)
        
        MECP2 mutants R133C ,D121G, R133H and S134F do not bind 5hmC-DNA (Homo sapiens)
        
        MECP2 R133C,MECP2 D121G,MECP2 R133H,MECP2 S134F [nucleoplasm] (Homo sapiens)
        
        MECP2 R133C [nucleoplasm] (Homo sapiens)

Participants

members

MECP2_e2 R133C [nucleoplasm] (Homo sapiens)

candidates

MECP2_e1 R145C [nucleoplasm] (Homo sapiens)

Participates

as a member of

MECP2 R133C,MECP2 D121G,MECP2 R133H,MECP2 S134F [nucleoplasm] (Homo sapiens)

Disease

Name	Identifier	Synonyms
Rett syndrome	DOID:1206	Rett's disorder, cerebroatrophic hyperammonemia

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