The protein encoded by this gene hydrolyzes cerebroside sulfate to cerebroside and sulfate. Defects in this gene lead to metachromatic leucodystrophy (MLD), a progressive demyelination disease which results in a variety of neurological symptoms and ultimately death. Alternatively spliced transcript variants have been described for this gene.
应用类型
WB
免疫原
Recombinant fusion protein containing a sequence corresponding to amino acids 210-509 of human ARSA (NP_000478.3).
