| Dataset | GeneRIF Biological Term Annotations |
| Category | structural or functional annotations |
| Type | biological term |
| Description | N-sulfoglucosamine sulfohydrolase|This gene encodes one of several enzymes involved in the lysosomal degradation of heparan sulfate. Mutations in this gene are associated with Sanfilippo syndrome A, one type of the lysosomal storage disease mucopolysaccaridosis III, which results from impaired degradation of heparan sulfate. Transcripts of varying sizes have been reported but their biological validity has not been determined. [provided by RefSeq, Jul 2008] (NCBI Entrez Gene Database, 6448) |
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2 genes co-occuring with the biological term sgsh in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.
