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FLASH GENE
Symbol HACE1 contributors: mct - updated : 08-11-2017
HGNC name HECT domain and ankyrin repeat containing, E3 ubiquitin protein ligase 1
HGNC id 21033
ASSOCIATED DISORDERS
corresponding disease(s) SPPRS
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
tumoral     --low  
in sporadic Wilms tumor (by hypermethylation)
tumoral     --low  
in multiple human tumor type
tumoral     --low  
by hyper methylation in gastric carcinoma (Sakata 2009)
constitutional     --low  
associated with a significant decrease in apoptosis and an accumulation of cells in the S and G2/M phases
constitutional     --over  
in the serum of patients with heart failure
constitutional     --low  
reduction of HACE1 levels in the striatum of Huntington disease patients, implicating HACE1 in the pathology of Huntington disease
tumoral     --low  
by hypermethylation in hepatocellular carcinoma
Susceptibility to neuroblastoma
Variant & Polymorphism other
  • common variants in HACE1 and LIN28B influence neuroblastoma susceptibility
  • Candidate gene
    Marker
  • may be a valuable prognostic biomarker for hepatocellular carcinoma
  • Therapy target
    SystemTypeDisorderPubmed
    cancerdigestiveliver
    potential therapeutic target for hepatocellular carcinoma treatment
    ANIMAL & CELL MODELS