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MRXS14

Chr XXLR

UPF3B regulator of nonsense mediated mRNA decay

Also known as: HUPF3B, MRX62, MRX82, MRXS14, RENT3B, UPF3BP1, UPF3BP2, UPF3BP3

NCBI Gene: 65109 OMIM: 300676

This protein is part of a post-splicing complex that regulates mRNA nuclear export and nonsense-mediated mRNA decay, binding to mRNAs at exon-exon junctions to facilitate quality control of gene expression. Mutations cause X-linked syndromic intellectual developmental disorder. The condition follows X-linked recessive inheritance, primarily affecting males.

OMIM ResearchSummary from RefSeq, OMIM

This gene encodes a protein that is part of a post-splicing multiprotein complex involved in both mRNA nuclear export and mRNA surveillance. The encoded protein is one of two functional homologs to yeast Upf3p. mRNA surveillance detects exported mRNAs with truncated open reading frames and initiates nonsense-mediated mRNA decay (NMD). When translation ends upstream from the last exon-exon junction, this triggers NMD to degrade mRNAs containing premature stop codons. This protein binds to the mRNA and remains bound after nuclear export, acting as a nucleocytoplasmic shuttling protein. It forms with Y14 a complex that binds specifically 20 nt upstream of exon-exon junctions. This gene is located on the long arm of chromosome X. Two splice variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

OMIM ResearchGenerating clinical summary…