DCP1B

Chr 12

decapping mRNA 1B

Also known as: DCP1

NCBI Gene: 196513 ENSG00000151065 UniProt: Q8IZD4 OMIM: 609843

The protein removes the 5'-methyl guanine cap from mRNA molecules as part of regulated mRNA degradation and nonsense-mediated decay pathways. Mutations cause neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed puberty, inherited in an autosomal recessive pattern. This gene shows very low constraint against loss-of-function variants in the general population.

OMIM ResearchSummary from RefSeq, UniProt

This gene encodes a member of a family of proteins that function in removing the 5' cap from mRNAs, which is a step in regulated mRNA decay. This protein localizes to cytoplasmic foci which are the site of mRNA breakdown and turnover. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.05

LOEUF

Mechanism· predicted