DISEASES

Disease-gene associations mined from literature

Literature associating SUMF1 and mucopolysaccharidosis

SUMF1 [ENSP00000272902]

Formylglycine-generating enzyme; Oxidase that catalyzes the conversion of cysteine to 3- oxoalanine on target proteins, using molecular oxygen and an unidentified reducing agent (PubMed:12757706, PubMed:15657036, PubMed:15907468, PubMed:25931126, PubMed:16368756, PubMed:21224894). 3- oxoalanine modification, which is also named formylglycine (fGly), occurs in the maturation of arylsulfatases and some alkaline phosphatases that use the hydrated form of 3-oxoalanine as a catalytic nucleophile (PubMed:12757706, PubMed:15657036, PubMed:15907468, PubMed:25931126, PubMed:16368756). Known substrates include GALNS, ARSA, STS and ARSE . ECO:0000269|PubMed:15907468, ECO:0000269|PubMed:16368756,; Belongs to the sulfatase-modifying factor family.

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

Linkouts:  STRING  Pharos  UniProt  OMIM