The protein encoded by this gene hydrolyzes cerebroside sulfate to cerebroside and sulfate. Defects in this gene lead to metachromatic leucodystrophy, 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.
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Protein Aliases: ARSA-I; ARSA1; Arylsulfatase A; Arylsulfatase A component B; Arylsulfatase A component C; ASA; ASNA-I; ATPase ASNA1; Cerebroside-sulfatase; EC 18.104.22.168; GET3; TRC40
Gene Aliases: ARSA; MLD
UniProt ID: (Human) P15289
Molecular Function: hydrolase