Background
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ARSA hydrolyzes cerebroside sulfate. Defects in ARSA are a cause of leukodystrophy metachromatic (MLD).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.
Alias Symbols: MLD
Protein Interaction Partner: ARSA,BMPR2,CTSL1,GAL3ST1,ARSA
Protein Size: 507
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