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FLASH GENE
Symbol ELP3 contributors: mct/npt - updated : 05-01-2017
HGNC name elongation protein 3 homolog (S. cerevisiae)
HGNC id 20696
ASSOCIATED DISORDERS
corresponding disease(s)
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
tumoral   deletion    
with CCDC25, DLC1, PROSC, SH2D4A, and SORBS3 in Hepatocellular carcinoma (HCC) from patients with poor outcomes
tumoral     --low  
promoter hypermethylation may be an important mechanism of the transcriptional inactivation of ARRDC3, GATA5, and ELP3 in invasive ductal carcinomas (IDCs)
Susceptibility
  • to amyotropic lateral sclerosis (ALS)
  • to motor neuron degeneration
  • Variant & Polymorphism SNP association of ELP3 variants with motor neuron degeneration (Simpson 2009)
    Candidate gene
    Marker
    Therapy target potential therapeutic target for treatment of ALS (Simpson 2009)
    ANIMAL & CELL MODELS
  • depletion of Elp3 in embryonic stem cell (ESC) led to aberrant cell cycle progression, along with reduced expression of genes for pluripotency