Arylsulfatase A (ARSA)
MLD; Metachromatic Leucodystrophy
 HGNC 713
 MGI 88077
 OMIM 607574
 RGD 1310381
 UCSC uc003bmz.3
 UniProt P15289
 USCN 96619
Arylsulfatase A (ARSA)
Arylsulfatase A 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
The predicted amino acid sequence comprised 507 residues, including a putative signal peptide of 18 residues. The sequence contains 3 potential N-glycosylation sites. The cDNA hybridized to 2.0- and 3.9-kb species in RNA from human fibroblasts and human liver.
Research reagent products of Arylsulfatase A (ARSA)
Organism
Protein
Antibody
ELISA Kit
CLIA Kit
Catalog Manual McAb PcAb Catalog Manual Catalog Manual
Homo sapiens (Human)n/an/an/an/a sE96619HuPDFn/an/a
Mus musculus (Mouse)n/an/an/an/a n/an/an/an/a
Rattus norvegicus (Rat)n/an/an/an/a n/an/an/an/a