SUMF1
sulfatase modifying factor 1
- Ensembl:
- ENSG00000144455
- OMIM:
- 607939
- Synonyms:
- FGE, UNQ3037
Cilia effects upon perturbation of SUMF1
Ciliogenesis screen results (1 screen)
- Pusapati et al. 2018 (CRISPR) [CRISPR]: Negative Regulator (Hh signaling, pos_rank=544, lfc=0.81) PMID:30270045
Phenotypes
- Mouse phenotype:
- preweaning lethality; incomplete penetrance
Ciliopathy associations
- Retinal Dystrophy/Degeneration
Subcellular localization
Ciliary associated gene
Function
Mutations in SUMF1 cause Retinal Dystrophy (PMID: 38863195).