Source: | Rabbit | Gene Id: | 285362 |
Isotype: | IgG | Swiss Prot: | |
purity: | Purified by Protein A. |
Background: |
SUMF1 is a 374 amino acid alternatively spliced protein that localizes to the lumen of the endoplasmic reticulum and belongs to the sulfatase-modifying factor family. Expressed ubiquitously with highest expression in liver, kidney and pancreas, SUMF1 exists as either a monomer, a homodimer or a heterodimer (with SUMF2) and functions to oxidize sulfatase cysteine residues to an active FGIy residue, thereby playing an important role in sulfatase activity. Defects in the gene encoding SUMF1 are the cause of multiple sulfatase deficiency (MSD), a heterogeneous disorder characterized by metachromatic leukodystrophy, mucopolysaccharidosis, chondrodysplasia punctata, hydrocephalus, ichthyosis, neurologic deterioration and developmental delay. |
Reactivity | Human, Mouse, Rat |
Tested applications | WB IHC IF |
Clonality | Polyclonal Antibody |
Calculated MW | / |
Recommended Dilutions |
WB 1:100-1:1000
IHC 1:100-1:500
IF 1:50-1:200
|
Immunogen | KLH conjugated synthetic peptide derived from human SUMF1 |
Storage | Aqueous buffered solution containing 100ug/ml BSA, 50% glycerol and 0.09% sodium azide. Store at -20℃ for 12 months |
Synonym | MGC150436, AAPA3037, C alpha formylglycine generating enzyme 1, C-alpha-formylglycine-generating enzyme 1, FGE, FGly generating enzyme, MGC131853, Sulfatase modying factor 1 [Precursor], Sulfatase-modying factor 1, SUMF1, SUMF1_HUMAN, UNQ3037. |
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