The role of Methyl-CpG Binding Protein 2 in Ret
《The role of Methyl-CpG Binding Protein 2 in Rett Syndrome》專(zhuān)家PPT內容預覽
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《The role of Methyl-CpG Binding Protein 2 in Rett Syndrome》專(zhuān)家PPT內容簡(jiǎn)介
Rett Syndrome is a neurodevelopmental disorder
Hypotonia – loss of muscle tone
Apraxia —inability to perform motor functions
loss of use hands
repetitive hand movements
diminished eye contact
gait abnormalities
lack of speech development
Other Symptoms
autism like behaviors
toe walking
sleep problems
cognitive disabilities
seizures
breathing problems
teeth grinding
difficulty chewing
MECP2 GO Terms Suggest Function
Biological Process
Negative regulation of transc**tion from RNA polymerase II promoter
Cellular Component
Mitochondrion
Nucleolus
Nucleus *Also noted in Uniprot
Molecular Function
DNA binding
Double stranded methylated DNA binding
Protein binding
Transc**tion corepressor activity
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