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arsa

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Official Full Name
arylsulfatase A
Background
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. [provided by RefSeq, Dec 2010]
Synonyms
ARSA; arylsulfatase A; MLD; ASA; cerebroside-sulfatase; metachromatic leucodystrophy; MLD, ARSA; zgc:101575