MIER1

Chr 1

MIER1 transcriptional regulator

Also known as: ER1, MI-ER1

NCBI Gene: 57708 ENSG00000198160 UniProt: Q8N108

The protein functions as a transcriptional repressor that regulates gene expression by recruiting histone deacetylase HDAC1 for chromatin silencing. Mutations cause neurodevelopmental disorder with intellectual disability, autism spectrum disorder, and behavioral abnormalities, inherited in an autosomal dominant pattern. The gene shows significant constraint against loss-of-function variants (LOEUF 0.42), indicating that such variants are likely pathogenic when they occur.

ResearchSummary from RefSeq, UniProt

This gene encodes a protein that was first identified in Xenopus laevis by its role in a mesoderm induction early response (MIER). The encoded protein functions as a transcriptional regulator. Alternatively spliced transcript variants encode multiple isoforms, some of which lack a C-terminal nuclear localization signal. [provided by RefSeq, May 2013]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.42

LOEUF

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Mechanism

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