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FLASH GENE
Symbol MDM4 contributors: mct/ - updated : 24-05-2023
HGNC name Mdm4 p53 binding protein homolog (mouse)
HGNC id 6974
ASSOCIATED DISORDERS
corresponding disease(s) BMFS6
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
tumoral   amplification    
strongly selected for during tumour progression as a mechanism to suppress the TP53 response in RB1-deficient retinal cells
tumoral     --over  
in malignant glioma escaping TP53 dependent growth control
tumoral     --low  
downregulation of MDM4 expression associates with cisplatin resistance in ovarian cancers
constitutional   deletion    
induces multipolar mitotic spindle formation and the loss of chromosomes from hyperploid TP53-null cells
tumoral   amplification    
in breast carcinomas, colon carcinomas, lung carcinomas, and a smaller percentage of gliomas
constitutional     --over  
in fibroblast-like synoviocyte, may contribute to the hyperplasia phenotype of rheumatoid arthritis synovial tissues
tumoral     --over  
in retinoblastoma
constitutional germinal mutation      
in a family with features suggestive of dyskeratosis congenita, e.g., bone marrow hypocellularity, short telomeres, tongue squamous cell carcinoma, and acute myeloid leukemia
Susceptibility
Variant & Polymorphism
Candidate gene
Marker
  • MDM4 is a novel biomarker for hematologic malignancies
  • MDM4 expression is a factor conferring poor prognosis in patients with Gastric cancer with low expression of TP53 and may confer drug resistance
  • Therapy target
    SystemTypeDisorderPubmed
    cancereye 
    specific chemotherapeutic target for treating retinoblastoma
    cancereye 
    MDM4 inhibitor, SJ-172550, and can efficiently kill MDM4-amplified retinoblastoma cells
    cancerskin 
    is a promising target for antimelanoma combination therapy
    cancerhemopathy 
    therapeutic target for hematologic malignancies
    ANIMAL & CELL MODELS