Aliases for ARSA Gene
External Ids for ARSA Gene
Previous GeneCards Identifiers for ARSA Gene
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]
GeneCards Summary for ARSA Gene
ARSA (Arylsulfatase A) is a Protein Coding gene. Diseases associated with ARSA include Metachromatic Leukodystrophy and Metachromatic Leukodystrophy, Juvenile Form. Among its related pathways are Gamma carboxylation, hypusine formation and arylsulfatase activation and Innate Immune System. Gene Ontology (GO) annotations related to this gene include calcium ion binding and arylsulfatase activity. An important paralog of this gene is STS.
UniProtKB/Swiss-Prot Summary for ARSA Gene
Hydrolyzes cerebroside sulfate.