Immunoprecipitation of ARSA transfected lysate using anti-ARSA MaxPab rabbit polyclonal antibody and Protein A Magnetic Bead (U0007), and immunoblotted with ARSA purified MaxPab mouse polyclonal antibody (B01P) (H00000410-B01P).
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. Multiple alternatively spliced transcript variants, one of which encodes a distinct protein, have been described for this gene. [provided by RefSeq