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ARSA arylsulfatase A

Also known as: MLD

Summary

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]

Genomic context

Location:
22q13.33
Sequence:
Chromosome: 22; NC_000022.11 (50622754..50628173, complement)
Total number of exons:
9

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