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ARSA / Arylsulfatase A 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.
Gene Name: | arylsulfatase A |
Synonyms: | ARSA, Arylsulfatase A, Cerebroside-sulfatase, MLD, ASA |
Target Sequences: | NM_000487 NP_000478.3 P15289 |
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