The fumarate hydratase gene, located on the long arm of chromosome 1 (1q42.3-43), spans 22 kilobases and has 10 exons. The first exon codes for a signal peptide.
Hereditary leiomyomatosis and renal cell cancer syndrome
Menke-Hennekam syndrome
Hereditary leiomyomatosis and renal cell carcinoma
Fryns syndrome
Heerfordt syndrome
Serrated polyposis syndrome
Hereditary breast–ovarian cancer syndrome
Ehlers–Danlos syndromes