Gene Symbol | ARSA |
Entrez Gene ID | 410 |
Full Name | arylsulfatase A |
Synonyms | MLD |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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]. |
Disorder MIM: | |
Disorder Html: | Metachromatic leukodystrophy, 250100 (3) |