Arylsulfatase A, ASA, Cerebroside-sulfatase, Arylsulfatase A component B, Arylsulfatase A component C, ARSA
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.
