1.8.3.B2: formylglycine generating enzyme

This is an abbreviated version, for detailed information about formylglycine generating enzyme, go to the full flat file.

Reaction

a [sulfatase]-L-cysteine
+
O2
+ 2 a thiol =
a [sulfatase]-3-oxo-L-alanine
+
hydrogen sulfide
+
a disulfide
+
H2O

Synonyms

C-alpha-formylglycine-generating enzyme 1, FGE, SUMF1

ECTree

     1 Oxidoreductases
         1.8 Acting on a sulfur group of donors
             1.8.3 With oxygen as acceptor
                1.8.3.B2 formylglycine generating enzyme

Disease

Disease on EC 1.8.3.B2 - formylglycine generating enzyme

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DISEASE
TITLE OF PUBLICATION
LINK TO PUBMED
arylsulfatase deficiency
Expanding the genetic cause of multiple sulfatase deficiency: A novel SUMF1 variant in a patient displaying a severe late infantile form of the disease.
Molecular analysis of SUMF1 mutations: stability and residual activity of mutant formylglycine-generating enzyme determine disease severity in multiple sulfatase deficiency.
Molecular and functional analysis of SUMF1 mutations in multiple sulfatase deficiency.
Multiple sulfatase deficiency is due to hypomorphic mutations of the SUMF1 gene.
Multistep, sequential control of the trafficking and function of the multiple sulfatase deficiency gene product, SUMF1 by PDI, ERGIC-53 and ERp44.
Natural disease history and characterisation of SUMF1 molecular defects in ten unrelated patients with multiple sulfatase deficiency.
Neonatal multiple sulfatase deficiency with a novel mutation and review of the literature.
Rapid degradation of an active formylglycine generating enzyme variant leads to a late infantile severe form of multiple sulfatase deficiency.
SUMF1 enhances sulfatase activities in vivo in five sulfatase deficiencies.
SUMF1 mutations affecting stability and activity of formylglycine generating enzyme predict clinical outcome in multiple sulfatase deficiency.
Systemic inflammation and neurodegeneration in a mouse model of multiple sulfatase deficiency.
[Clinical characterization and mutation identification for multiple sulfatase deficiency patients in China].
Mucopolysaccharidosis IV
Adeno-associated virus gene transfer in Morquio A disease - effect of promoters and sulfatase-modifying factor 1.
Multiple Sulfatase Deficiency Disease
Expanding the genetic cause of multiple sulfatase deficiency: A novel SUMF1 variant in a patient displaying a severe late infantile form of the disease.
Molecular analysis of SUMF1 mutations: stability and residual activity of mutant formylglycine-generating enzyme determine disease severity in multiple sulfatase deficiency.
Molecular and functional analysis of SUMF1 mutations in multiple sulfatase deficiency.
Multiple sulfatase deficiency is due to hypomorphic mutations of the SUMF1 gene.
Multistep, sequential control of the trafficking and function of the multiple sulfatase deficiency gene product, SUMF1 by PDI, ERGIC-53 and ERp44.
Natural disease history and characterisation of SUMF1 molecular defects in ten unrelated patients with multiple sulfatase deficiency.
Neonatal multiple sulfatase deficiency with a novel mutation and review of the literature.
Rapid degradation of an active formylglycine generating enzyme variant leads to a late infantile severe form of multiple sulfatase deficiency.
SUMF1 mutations affecting stability and activity of formylglycine generating enzyme predict clinical outcome in multiple sulfatase deficiency.
Systemic inflammation and neurodegeneration in a mouse model of multiple sulfatase deficiency.
[Clinical characterization and mutation identification for multiple sulfatase deficiency patients in China].
Nervous System Diseases
Haplotype structure enables prioritization of common markers and candidate genes in autism spectrum disorder.
Neurologic Manifestations
Astrocyte dysfunction triggers neurodegeneration in a lysosomal storage disorder.
Osteoporosis
High-throughput screening of mouse gene knockouts identifies established and novel skeletal phenotypes.
Pulmonary Disease, Chronic Obstructive
Sulfatase modifying factor 1 (SUMF1) is associated with Chronic Obstructive Pulmonary Disease.
Spinocerebellar Ataxias
Heterozygous deletion of ITPR1, but not SUMF1, in spinocerebellar ataxia type 16.