FH

fumarate hydratase

Ensembl:
ENSG00000091483
UniProt:
P07954
OMIM:
136850

Cilia effects upon perturbation of FH

Ciliogenesis screen results (5 screens)

  • Kim2016: Not Reported
  • Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-9.25) PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
  • Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381
  • Elliott et al. 2025 (CRISPRa) [CRISPRa]: Disassembly Trigger (casTLE Effect=-2.23) PMID:41160700

Phenotypes

Human ciliopathy phenotype:
hereditary leiomyomatosis and renal cell cancer

Subcellular localization

cilia associated gene, mitochondria

Functional category

  • Ciliary assembly/disassembly
  • Reproduction & sperm
  • Cell migration & adhesion

Function

SPANX-A/D interacts with fumarate hydratase(FH) and colocalises with both fumarate hydratase and Tektin 1 proteins, involved in meeting energy demands for sperm motility, and with nuclear pore complex nucleoporins ( 32221341).