The SUMF1 Polyclonal Antibody from Bioss Inc. is a Rabbit Polyclonal antibody to SUMF1. This antibody recognizes Homo Sapiens, and Human antigen. The SUMF1 Polyclonal Antibody has been shown to work in the following applications: EIA, Immunoassay, ELISA, Immunocytochemistry, Immunofluorescence, Immunohistochemistry, Immunohistochemistry - fixed, Immunohistochemistry - frozen, and Western Blot.
Description
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