The protein encoded by this gene hydrolyzes cerebrosidensulfate to cerebroside and sulfate. Defects in this gene lead tonmetachromatic leucodystrophy (MLD), a progressive demyelinationndisease which results in a variety of neurological symptoms andnultimately death. Alternatively spliced transcript variants havenbeen described for this gene.
应用类型
WB
免疫原
This ARSA antibody is generated from mice immunized with a KLH conjugated synthetic peptide between 408-439 amino acids from the C-terminal region of human ARSA.