Entrez gene ID | | 410 |
Official gene symbol | | ARSA |
Full name | | arylsulfatase A |
Aliases | | ,MLD, |
Gene 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] |
Location | | Chromosome: 22 Locus: 22q13.31-qter|22q13. |
Gene position | | 51066607 - 51063449 Map Viewer |
Gene orientation | | minus |
Gene size | | 3159 bp |
Gene sequence |
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OMIM ID | | 607574 |
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