3c2i: Difference between revisions

<table><tr><td colspan='2'>[[3c2i]] is a 3 chain structure with sequence from [https://en.wikipedia.org/wiki/Human Human]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=3C2I OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=3C2I FirstGlance]. <br>

</td></tr><tr id='NonStdRes'><td class="sblockLbl"><b>[[Non-Standard_Residue|NonStd Res:]]</b></td><td class="sblockDat"><scene name='pdbligand=5CM:5-METHYL-2-DEOXY-CYTIDINE-5-MONOPHOSPHATE'>5CM</scene>, <scene name='pdbligand=MSE:SELENOMETHIONINE'>MSE</scene></td></tr>

<tr id='gene'><td class="sblockLbl"><b>[[Gene|Gene:]]</b></td><td class="sblockDat">MECP2 ([https://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 HUMAN])</td></tr>

[[https://www.uniprot.org/uniprot/MECP2_HUMAN MECP2_HUMAN]] Defects in MECP2 may be a cause of Angelman syndrome (AS) [MIM:[https://omim.org/entry/105830 105830]]; also known as happy puppet syndrome. AS is a neurodevelopmental disorder characterized by severe mental retardation, absent speech, ataxia, sociable affect and dysmorphic facial features. AS and Rett syndrome have overlapping clinical features.<ref>PMID:11376998</ref> <ref>PMID:11283202</ref>  Defects in MECP2 are the cause of mental retardation syndromic X-linked type 13 (MRXS13) [MIM:[https://omim.org/entry/300055 300055]]. Mental retardation is a mental disorder characterized by significantly sub-average general intellectual functioning associated with impairments in adaptative behavior and manifested during the developmental period. MRXS13 patients manifest mental retardation associated with other variable features such as spasticity, episodes of manic depressive psychosis, increased tone and macroorchidism.<ref>PMID:10986043</ref> <ref>PMID:11007980</ref> <ref>PMID:11309367</ref> <ref>PMID:11885030</ref> <ref>PMID:12325019</ref> <ref>PMID:12161600</ref> <ref>PMID:11805248</ref> <ref>PMID:12615169</ref> <ref>PMID:16966553</ref>  Defects in MECP2 are the cause of Rett syndrome (RTT) [MIM:[https://omim.org/entry/312750 312750]]. RTT is an X-linked dominant disease, it is a progressive neurologic developmental disorder and one of the most common causes of mental retardation in females. Patients appear to develop normally until 6 to 18 months of age, then gradually lose speech and purposeful hand movements and develop microcephaly, seizures, autism, ataxia, intermittent hyperventilation, and stereotypic hand movements. After initial regression, the condition stabilizes and patients usually survive into adulthood.<ref>PMID:11376998</ref> <ref>PMID:11283202</ref> <ref>PMID:12161600</ref> <ref>PMID:15034579</ref> <ref>PMID:10577905</ref> <ref>PMID:10508514</ref> <ref>PMID:11055898</ref> <ref>PMID:10767337</ref> <ref>PMID:10814719</ref> <ref>PMID:10944854</ref> <ref>PMID:10745042</ref> <ref>PMID:10991688</ref> <ref>PMID:10991689</ref> <ref>PMID:11706982</ref> <ref>PMID:11738883</ref> <ref>PMID:11241840</ref> <ref>PMID:11269512</ref> <ref>PMID:11402105</ref> <ref>PMID:12567420</ref> <ref>PMID:12966522</ref> <ref>PMID:12966523</ref> <ref>PMID:15057977</ref>  Defects in MECP2 may be the cause of susceptibility autism X-linked type 3 (AUTSX3) [MIM:[https://omim.org/entry/300496 300496]]. AUTSX3 is a pervasive developmental disorder (PDD), prototypically characterized by impairments in reciprocal social interaction and communication, restricted and stereotyped patterns of interests and activities, and the presence of developmental abnormalities by 3 years of age.<ref>PMID:12770674</ref>  Defects in MECP2 are the cause of encephalopathy neonatal severe due to MECP2 mutations (ENS-MECP2) [MIM:[https://omim.org/entry/300673 300673]]. Note=The MECP2 gene is mutated in Rett syndrome, a severe neurodevelopmental disorder that almost always occurs in females. Although it was first thought that MECP2 mutations causing Rett syndrome were lethal in males, later reports identified a severe neonatal encephalopathy in surviving male sibs of patients with Rett syndrome. Additional reports have confirmed a severe phenotype in males with Rett syndrome-associated MECP2 mutations.<ref>PMID:11238684</ref>  Defects in MECP2 are the cause of mental retardation syndromic X-linked Lubs type (MRXSL) [MIM:[https://omim.org/entry/300260 300260]]. Mental retardation is characterized by significantly below average general intellectual functioning associated with impairments in adaptative behavior and manifested during the developmental period. MRXSL patients manifest mental retardation associated with variable features. They include swallowing dysfunction and gastroesophageal reflux with secondary recurrent respiratory infections, hypotonia, mild myopathy and characteristic facies such as downslanting palpebral fissures, hypertelorism and a short nose with a low nasal bridge. Note=Increased dosage of MECP2 due to gene duplication appears to be responsible for the mental retardation phenotype.  

[[https://www.uniprot.org/uniprot/MECP2_HUMAN MECP2_HUMAN]] Chromosomal protein that binds to methylated DNA. It can bind specifically to a single methyl-CpG pair. It is not influenced by sequences flanking the methyl-CpGs. Mediates transcriptional repression through interaction with histone deacetylase and the corepressor SIN3A.  

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[[Category: Human]]

[[Category: Bird, A P]]

[[Category: Ho, K L]]

[[Category: Klose, R J]]

[[Category: McNae, I W]]

[[Category: Schmiedeberg, L]]

[[Category: Walkinshaw, M D]]

[[Category: Water mediated recognition]]