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Article

Regulation, diversity and function of MECP2 exon and 3'UTR isoforms.

Human molecular genetics - 30 Sept 2020

Rodrigues Deivid Carvalho, Mufteev Marat, Ellis James

Abstract excerpt

The methyl-CpG-binding protein 2 (MECP2) is a critical global regulator of gene expression. Mutations in MECP2 cause neurodevelopmental disorders including Rett syndrome (RTT). MECP2 exon 2 is spliced into two alternative messenger ribonucleic acid (mRNA) isoforms encoding MECP2-E1 or MECP2-E2 protein isoforms that differ in their N-termini. MECP2-E2, isolated first, was used to define the general roles of MECP2...

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Identifiers

PMID: 32681172
DOI: 10.1093/hmg/ddaa154
PMCID: PMC7530521

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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