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FLASH GENE
Symbol FH contributors: mct - updated : 08-10-2012
HGNC name fumarate hydratase
HGNC id 3700
ASSOCIATED DISORDERS
corresponding disease(s) FHD , HLRCC , MCUL1
related resource MITOP database
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
tumoral germinal mutation      
in ovarian mucinous cystadenoma with uterine and skin leiomyomata and renal cell cancer
tumoral germinal mutation     loss of function
in hereditary leiomyomatosis and renal cell cancer (HLRCC)
tumoral germinal mutation      
in adult leydig cell tumors of the testis
tumoral     --low  
FH mRNA and protein expression are reduced in clear cell renal cancer, the most common histologic variant of kidney cancer, and reduced FH leads to the accumulation of HIF2A
Susceptibility
  • to uterine and skin leiomyomata
  • to renal cell cancer
  • Variant & Polymorphism other FH germline mutation associated to early onset uterine and skin leiomyomata and renal cell cancer
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS