FH Chromosome 1
Fumarate hydratase
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What This Gene Does
The protein encoded by this gene is an enzymatic component of the tricarboxylic acid (TCA) cycle, or Krebs cycle, and catalyzes the formation of L-malate from fumarate. It exists in both a cytosolic form and an N-terminal extended form, differing only in the translation start site used. The N-terminal extended form is targeted to the mitochondrion, where the removal of the extension generates the same form as in the cytoplasm. It is similar to some thermostable class II fumarases and functions as a homotetramer. Mutations in this gene can cause fumarase deficiency and lead to progressive encephalopathy. [provided by RefSeq, Jul 2008]
Associated Conditions (18)
Hereditary cancer-predisposing syndrome
Fumarase deficiency
Hereditary leiomyomatosis and renal cell cancer
FH-related disorder
Ovarian cancer
Microcephaly
Hepatocellular carcinoma
Colon adenocarcinoma
Inherited renal cancer
Ovarian serous cystadenocarcinoma
Hereditary cancer
Familial cancer of breast
Cutaneous leiomyoma
Inherited phaeochromocytoma and paraganglioma excluding NF1
Uterine corpus endometrial carcinoma
See cases
Spinocerebellar ataxia 45
Uterine leiomyoma
Key Variants
RS1031919395
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Fumarase deficiency, Hereditary cancer-predisposing syndrome
Health Risk
RS1038324354
Conflicting classifications of pathogenicity
Fumarase deficiency, Hereditary cancer-predisposing syndrome, Fumarase deficiency
Health Risk
RS1057517735
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
Health Risk
RS1057521425
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Hereditary leiomyomatosis and renal cell cancer, Fumarase deficiency
Health Risk
RS1060499627
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
Health Risk
RS1060499636
Conflicting classifications of pathogenicity
Hereditary leiomyomatosis and renal cell cancer, Hereditary cancer-predisposing syndrome, Hereditary leiomyomatosis and renal cell cancer
Health Risk
RS1060499638
Conflicting classifications of pathogenicity
Hereditary leiomyomatosis and renal cell cancer, Fumarase deficiency, Hereditary leiomyomatosis and renal cell cancer
Health Risk
RS1060499640
Conflicting classifications of pathogenicity
Hereditary leiomyomatosis and renal cell cancer, FH-related disorder, Hereditary cancer-predisposing syndrome
Health Risk
RS1060500892
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Hereditary leiomyomatosis and renal cell cancer, Hereditary cancer-predisposing syndrome
Health Risk
RS1060500897
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Hereditary leiomyomatosis and renal cell cancer, Hereditary cancer-predisposing syndrome
Health Risk
RS1060500902
Conflicting classifications of pathogenicity
Hereditary leiomyomatosis and renal cell cancer, Fumarase deficiency, Hereditary leiomyomatosis and renal cell cancer
Health Risk
RS1060504079
Conflicting classifications of pathogenicity
Fumarase deficiency, Hereditary leiomyomatosis and renal cell cancer, Fumarase deficiency
Health Risk
All Variants (544)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1660103724 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1660143834 | Health Risk | Pathogenic | — |
| RS199909758 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2147911203 | Health Risk | Pathogenic | — |
| RS2147911265 | Health Risk | Pathogenic | — |
| RS2147911268 | Health Risk | Pathogenic | — |
| RS2147911365 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2147911367 | Health Risk | Pathogenic | — |
| RS2147913263 | Health Risk | Pathogenic | — |
| RS2147913317 | Health Risk | Pathogenic | — |
| RS2147913368 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary leiomyomatosis and renal cell cancer, Hereditary cancer-predisposing syndrome |
| RS2147913407 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2147914910 | Health Risk | Pathogenic | — |
| RS2147914963 | Health Risk | Pathogenic | — |
| RS2147916135 | Health Risk | Pathogenic | — |
| RS2147916324 | Health Risk | Pathogenic | — |
| RS2147916327 | Health Risk | Pathogenic | — |
| RS2147916393 | Health Risk | Pathogenic | — |
| RS2147916407 | Health Risk | Pathogenic | — |
| RS2147917520 | Health Risk | Pathogenic | — |
| RS2147917619 | Health Risk | Pathogenic | Hereditary leiomyomatosis and renal cell cancer, Hereditary leiomyomatosis and renal cell cancer |
| RS2147919380 | Health Risk | Pathogenic | — |
| RS2147919385 | Health Risk | Pathogenic | — |
| RS2147919403 | Health Risk | Pathogenic | — |
| RS2147919525 | Health Risk | Pathogenic | — |
| RS2147919590 | Health Risk | Pathogenic | — |
| RS2147919608 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2147921728 | Health Risk | Pathogenic | — |
| RS2147921966 | Health Risk | Pathogenic | — |
| RS2147923081 | Health Risk | Pathogenic | — |
| RS2147925168 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2147926843 | Health Risk | Pathogenic | — |
| RS2147926875 | Health Risk | Pathogenic | — |
| RS2147926893 | Health Risk | Pathogenic | — |
| RS2147926916 | Health Risk | Pathogenic | — |
| RS2147926966 | Health Risk | Pathogenic | — |
| RS2147927054 | Health Risk | Pathogenic | — |
| RS2527308386 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2527308398 | Health Risk | Pathogenic | Hereditary leiomyomatosis and renal cell cancer, Hereditary leiomyomatosis and renal cell cancer |
| RS2527308441 | Health Risk | Pathogenic | — |
| RS2527308465 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2527308484 | Health Risk | Pathogenic | — |
| RS2527308519 | Health Risk | Pathogenic | Hereditary leiomyomatosis and renal cell cancer, Hereditary leiomyomatosis and renal cell cancer |
| RS2527308607 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2527312860 | Health Risk | Pathogenic | — |
| RS2527313001 | Health Risk | Pathogenic | — |
| RS2527313091 | Health Risk | Pathogenic | — |
| RS2527313129 | Health Risk | Pathogenic | — |
| RS2527313228 | Health Risk | Pathogenic | — |
| RS2527316654 | Health Risk | Pathogenic | — |