EI24

Chr 11

EI24 autophagy associated transmembrane protein

Also known as: EPG4, PIG8, TP53I8

NCBI Gene: 9538 ENSG00000149547 UniProt: O14681

This gene encodes a tumor suppressor protein that acts as a negative growth regulator through the p53-mediated apoptosis pathway and regulates formation of degradative autolysosomes during autophagy. The gene is highly constrained against loss-of-function variation, but pathogenic variants and associated clinical phenotypes have not yet been established in pediatric patients. Further research is needed to determine if EI24 mutations cause recognizable neurodevelopmental or neurological disorders in children.

ResearchSummary from RefSeq, UniProt

This gene encodes a putative tumor suppressor and has higher expression in p53-expressing cells than in control cells and is an immediate-early induction target of p53-mediated apoptosis. The encoded protein may suppress cell growth by inducing apoptotic cell death through the caspase 9 and mitochondrial pathways. This gene is located on human chromosome 11q24, a region frequently altered in cancers. Alternative splicing results in multiple transcript variants. Pseudogenes of this gene have been defined on chromosomes 1, 3, 7, and 8. [provided by RefSeq, Feb 2014]

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

Some data sources returned errors (1)

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