MTHFR

methylenetetrahydrofolate reductase

Ensembl:
ENSG00000177000
UniProt:
P42898
OMIM:
607093

Cilia effects upon perturbation of MTHFR

Ciliogenesis screen results (4 screens)

  • Kim2016: Not Reported
  • Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-8.68) PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
  • Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381

Phenotypes

Human ciliopathy phenotype:
homocystinuria due to methylene tetrahydrofolate reductase deficiency

Subcellular localization

basal body, cytosol, transition zone

Functional category

  • Ciliary assembly/disassembly
  • Transition zone

Function

MTHFR has localized in basal body, transition zone.