In Western blots, approximately 50% cross-reactivity with recombinant mouse ARSA is observed.
Reconstitute at 0.2 mg/mL in sterile PBS.
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.
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Protein Aliases: Arylsulfatase A; Arylsulfatase A component B; Arylsulfatase A component C; ASA; Cerebroside-sulfatase; MLD
Gene Aliases: ARSA; MLD
UniProt ID: (Human) P15289
Entrez Gene ID: (Human) 410
Molecular Function: hydrolase