DIDO1

Chr 20

death inducer-obliterator 1

Also known as: BYE1, C20orf158, DATF-1, DATF1, DIDO2, DIDO3, DIO-1, DIO1

NCBI Gene: 11083 ENSG00000101191 UniProt: Q9BTC0

The DIDO1 protein functions as a transcription factor and tumor suppressor that is required for early embryonic stem cell development. Mutations cause intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies, which follows an autosomal dominant inheritance pattern. This gene is highly constrained against loss-of-function variants, indicating that haploinsufficiency is likely not tolerated in the general population.

ResearchSummary from RefSeq, UniProt

Apoptosis, a major form of cell death, is an efficient mechanism for eliminating unwanted cells and is of central importance for development and homeostasis in metazoan animals. In mice, the death inducer-obliterator-1 gene is upregulated by apoptotic signals and encodes a cytoplasmic protein that translocates to the nucleus upon apoptotic signal activation. When overexpressed, the mouse protein induced apoptosis in cell lines growing in vitro. This gene is similar to the mouse gene and therefore is thought to be involved in apoptosis. Alternatively spliced transcripts have been found for this gene, encoding multiple isoforms. [provided by RefSeq, Jul 2008]

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

0.19

LOEUF· LoF intol.

LOF

Mechanism· predicted

Some data sources returned errors (1)

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