(ARSA) arylsulfatase A [Homo sapiens]
Gene
Transcript(s)
Exon(s)
Protein(s)
Gene
 Accession  35372
 Official symbol  ARSA
 Official name  arylsulfatase A
 Gene type  protein-coding
 Organism  Homo sapiens
 Location  chromosome 22 (NC_000022.9) : 49410315...49413474  (-)
 Map  22q13.31-qter|22q13.33
 Length  3159  nt
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Alternative name(s) and Synynom(s) top
Synonyms MLD
Names metachromatic leucodystrophy
OTTHUMP00000196548
OTTHUMP00000196546
External Links top
EC_number 3.1.6.8
Ensembl ENSG00000100299
GeneID 410
HGNC 713
HPRD 09617
Comment top
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. Multiple alternatively spliced transcript variants, one of which encodes a distinct protein, have been described for this gene. [provided by RefSeq].
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