Synonyms:ARSA, ASA, ENTREZ:410, HGNC:713, MIM:607574, MLD, NM_000487, NM_001085425, NM_001085426, NM_001085427, NM_001085428, NM_001362782, NP_000478, NP_001078894, NP_001078895, NP_001078896, NP_001078897, NP_001349711, XM_011530691, XM_017028800, XM_024452241, XP_011528993, XP_016884289, XP_024308009, arylsulfatase A
Omim:OMIM:607574
Id:ENSG00000100299
Hgnc:HGNC:713
Description:arylsulfatase A
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]