ARSA, Official Symbol ARSAprovided by HGNC Official Full Name arylsulfatase Aprovided by HGNC Primary source HGNC:HGNC:713 See related Ensembl:ENSG00000100299 MIM:607574; AllianceGenome:HGNC:713 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as ASA; 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] Expression Ubiquitous expression in testis (RPKM 9.9), spleen (RPKM 8.9) and 25 other tissues See more Orthologs mouse all