EI24 Chromosome 11

EI24 autophagy associated transmembrane protein

1 variant 1 Health Risk

Upload your DNA to see your personal genotypes for variants in EI24.

What This Gene Does

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]

Associated Conditions (1)

Intellectual disability

Key Variants

RS1938981293

Likely pathogenic

Intellectual disability, Intellectual disability

Health Risk

All Variants (1)

RSID	Category	Clinical Significance	Conditions
RS1938981293	Health Risk	Likely pathogenic	Intellectual disability, Intellectual disability