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SUMF1 encodes an enzyme that catalyzes the hydrolysis of sulfate esters by oxidizing a cysteine residue in the substrate sulfatase to an active site 3-oxoalanine residue, which is also known as C-alpha-formylglycine. Additionally we are shipping SUMF1 Antibodies (60) and SUMF1 Kits (10) and many more products for this protein.
Showing 10 out of 13 products:
SUMF1 catalyses a monooxygenase type of reaction.
This detailed clinical description and follow-up of a cohort of patients, together with the molecular characterisation of their underlying defects, contribute to improved knowledge of multiple sulfatase deficiency.
MSD (show MESDC2 Proteins) presenting in the newborn period with hypotonia, apnoea, cyanosis and rolling eyes, hepato-splenomegaly and deafness. This patient was compound heterozygous for two so far undescribed SUMF1 mutations (c.191C > A; p.S64X and c.818A > G; p.D273G
The complete kinetic parameters for both forms of FGE are described, along with a proposed mechanism for FGE catalysis that accounts for the copper-dependent activity.
A novel missense mutation & an insertional truncating mutation in SUMF1 gene causing nultiple sulphatase deficiency.
furin (show FURIN Proteins)-mediated processing of FGE during secretion is a physiological means of higher eukaryotic cells to regulate FGE activity upon exit from the endoplasmic reticulum
Phenotypic outcome in Multiple Sulfatase Deficiency depends on both residual FGE activity as well as protein stability.
This study identified genetic variation of SUMF1 in genes associated with in vivo glutamate (show GRIN1 Proteins) measured using 1H magnetic resonance spectroscopic imaging in the grey matter of patients with multiple sclerosis.
mutational analysis of SUMF1 in 20 Multiple sulfatase deficiency patients of different ethnic origin
characterization of the human Calpha (show PRKACA Proteins)-formylglycine-generating enzyme
Sumf1(-/-) astrocytes failed to support the survival and function of wild-type cortical neurons, suggesting a non-cell autonomous mechanism for neurodegeneration.
Sumf1 controls hematopoietic stem progenitor cell differentiation and hematopoietic lineage development through FGF and Wnt (show WNT2 Proteins) signaling.
Sumf1 is indispensable for sulfatase activation in mice and mammals, differently from bacteria, have a single sulfatase modification system
This gene encodes an enzyme that catalyzes the hydrolysis of sulfate esters by oxidizing a cysteine residue in the substrate sulfatase to an active site 3-oxoalanine residue, which is also known as C-alpha-formylglycine. Mutations in this gene cause multiple sulfatase deficiency, a lysosomal storage disorder. Alternative splicing results in multiple transcript variants.
C-alpha-formylglycine-generating enzyme 1
, FGly-generating enzyme
, sulfatase-modifying factor 1
, sulfatase-modifying factor