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fh
FH
FH (fumarate hydratase) catalyzes fumarate → malate in the TCA cycle; LOF → fumarate accumulation → HIF-1α activation + TET2/KDM inhibition → epigenetic reprogramming; germline FH = HLRCC; somatic FH = FH-deficient RCC; 2SC IHC is a diagnostic biomarker.
Entry Metadata
| Field | Value |
|---|---|
| ID | fh |
| Name | FH |
| Status | draft |
| Last reviewed | 2026-06-07 |
| Atlas | 01-human |
| Scale | 03-molecular |
Cross-Atlas Connections
Sources
- Tomlinson IP, Alam NA, Rowan AJ, et al. Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer. Nat Genet. 2002;30(4):406-410. · PubMed 11865300
- Linehan WM, Rouault TA. Molecular pathways: fumarate hydratase-deficient kidney cancer — targeting the Warburg effect in cancer. Clin Cancer Res. 2013;19(13):3345-3352. · PubMed 23836472