MECP2

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MECP22016-09-08T12:55:32+00:00

MECP2  

MOLECULAR MEDICINE

The gene on chromosome Xq28 that encodes methyl CpG binding protein 2 (Rett Syndrome) (OMIM: 300005, UniProtKB: P51608), a chromosomal protein which binds to methylated DNA, specifically binding to a single methyl CpG pair and down-regulating transcription by interacting with histone deacetylase and the corepressor SIN3A. It is required for embryonic development.

Molecular pathology Defects of MECP2 cause:

• Angelman (happy puppet) syndrome (OMIM:105830)

• Autism—X-linked 3 (OMIM:300496)

• Mental retardation—X-linked—syndromic 13 (OMIM:300055) 

• Mental retardation—X-linked—syndromic—Lubs type (OMIM:300260) 

• Encephalopathy—neonatal severe—due to MECP2 (OMIM:300673)

• Rett syndrome (OMIM:312750)

Synonyms PPMX, MRX16, mental retardation—X-linked 16, MRX79, mental retardation—X-linked 79, RTT, RS, RTS

References http://www.genecards.org/cgi-bin/carddisp.pl?gene=MECP2

http://www.uniprot.org/uniprot/P51608

 

 

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