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FH - fumarate hydratase

Synonym(s) : fumarase
Previous symbols and names : _
Type : gene with protein product
Chromosomal location : 1q43
OMIM: 136850
HGNC: 3700
UniProtKB: P07954
Genatlas: FH
GenCC: FH
Ensembl: ENSG00000091483
IUPHAR-DB: -
Reactome: P07954
LOVD: FH

Diseases list

Disease-causing germline mutation(s) in Hereditary leiomyomatosis and renal cell cancer ORPHA:523
Disease-causing germline mutation(s) (loss of function) in Fumaric aciduria ORPHA:24
Disease-causing germline mutation(s) (loss of function) in Hereditary pheochromocytoma-paraganglioma ORPHA:29072

: Assessed

Additional information

Patient-centred resources for this gene

Diagnostic tests (207)

Research activities on this gene

Specialised Social Services

Eurordis directory

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