Description
Arylsulfatase A (ARSA) is an enzyme that breaks down sulfatides, namely cerebroside 3-sulfate intocerebroside and sulfate. In humans, arylsulfatase A is encoded by the ARSA gene. ARSA is mapped to 22q13.33. 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