Cell localization:Lysosome..This gene encodes the enzyme sµLfamidase, one of several enzymes involved in the lysosomal degradation of heparan sµLfate. Mutations in this gene are associated with the lysosomal storage disease mucopolysaccaridosis IIIA, also known as Sanfilippo syndrome A, which resµLts from impaired degradation of heparan sµLfate. Transcripts of varying sizes have been reported but their biological validity has not been determined. [provided by RefSeq, Jun 2017]
