Disease-gene associations mined from literature

Literature associating SUMF1 and mucopolysaccharidosis type IIIA

SUMF1 [ENSP00000272902]

C-alpha-formylglycine-generating enzyme 1; Using molecular oxygen and an unidentified reducing agent, oxidizes a cysteine residue in the substrate sulfatase to an active site 3-oxoalanine residue, which is also called C(alpha)-formylglycine. Known substrates include GALNS, ARSA, STS and ARSE; Belongs to the sulfatase-modifying factor family.

Synonyms:  SUMF1,  SUMF1p,  hSUMF1,  E9PF05,  F5GXA0 ...

Linkouts:  STRING  Pharos  UniProt  OMIM