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Sequence of this protein is as follows: PKQRRSIIRD RGPMYDDPTL PEGWTRKLKQ RKSGRSAGKY DVYLINPQGK AFRSKVELIA YFEKVGDTSL DPNDFDFTVT GRGSPSRREQ
MECP2 belongs to a family of nuclear proteins (including MBD1, MBD2, MBD3 and MBD4) that have a methyl-CpG binding domain. MECP2 is capable of binding specifically to methylated DNA. DNA methylation is the major modification of eukaryotic genomes and plays an essential role in mammalian development. MECP2 can also repress transcription from methylated gene promoters. In contrast to other MBD family members, MECP2 is X-linked and subject to X inactivation. MECP2 is dispensible in stem cells, but is essential for embryonic development. MECP2 gene mutations are the cause of most cases of Rett syndrome, a progressive neurologic developmental disorder and one of the most common causes of mental retardation in females.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: DKFZp686A24160; MeCp-2 protein; MECP2A; methyl CpG binding protein 2 (Rett syndrome) isoform MECP2_1; methyl CpG binding protein 2 (Rett syndrome) isoform MECP2_2; methyl CpG binding protein 2 (Rett syndrome) isoform MECP2_3; methyl CpG binding protein 2 (Rett syndrome) isoform MECP2_5; methyl CpG binding protein 2 (Rett syndrome) isoform MECP2_6; methyl CpG binding protein 2 (Rett syndrome) isoform MECP2_7; methyl CpG binding protein 2 (Rett syndrome) isoform MECP2_8; Methyl-CpG-binding protein 2; Rett Syndrome transcript 1; Rett syndrome; MECP2B; transcript variant; transcriptional repressor; involved in Rett syndrome disease; unnamed protein product
基因别名: AUTSX3; MECP2; MRX16; MRX79; MRXS13; MRXSL; PPMX; RS; RTS; RTT
UniProt ID: (Human) P51608
Entrez Gene ID: (Human) 4204