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).