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Literature summary for 1.8.3.7 extracted from

  • Meshach Paul, D.; Chadah, T.; Senthilkumar, B.; Sethumadhavan, R.; Rajasekaran, R.
    Structural distortions due to missense mutations in human formylglycine-generating enzyme leading to multiple sulfatase deficiency (2017), J. Biomol. Struct. Dyn., 36, 3575-3585.
    View publication on PubMed
Search for more literature for 1.8.3.7

Protein Variants

Protein Variants Comment Organism
A177P the mutation is associated with multiple sulfatase deficiency Homo sapiens
A279V the mutation is associated with multiple sulfatase deficiency Homo sapiens
A348P the mutation is associated with multiple sulfatase deficiency Homo sapiens
C218Y the mutation is associated with multiple sulfatase deficiency Homo sapiens
C336R the mutation is associated with multiple sulfatase deficiency Homo sapiens
E130D the mutation is associated with multiple sulfatase deficiency Homo sapiens
N259I the mutation is associated with multiple sulfatase deficiency Homo sapiens
P266L the mutation is associated with multiple sulfatase deficiency Homo sapiens
R224W the mutation is associated with multiple sulfatase deficiency Homo sapiens
R345C the mutation is associated with multiple sulfatase deficiency Homo sapiens
R349Q the mutation is associated with multiple sulfatase deficiency Homo sapiens
R349W the mutation is associated with multiple sulfatase deficiency Homo sapiens
S155P the mutation is associated with multiple sulfatase deficiency Homo sapiens
W179S the mutation is associated with multiple sulfatase deficiency Homo sapiens

Natural Substrates/ Products (Substrates)

Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
a [sulfatase]-L-cysteine + O2 + a thiol Homo sapiens
-
 a [sulfatase]-3-oxo-L-alanine + hydrogen sulfide + a disulfide + H2O
-
 ?

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
-
-

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
a [sulfatase]-L-cysteine + O2 + a thiol
-
 Homo sapiens a [sulfatase]-3-oxo-L-alanine + hydrogen sulfide + a disulfide + H2O
-
 ?

Synonyms

Synonyms Comment Organism
FGE
-
 Homo sapiens

General Information

General Information Comment Organism
malfunction structural distortions due to missense mutations in human formylglycine-generating enzyme lead to multiple sulfatase deficiency Homo sapiens