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Moderate to strong cytoplasmic positivity, often with a granular pattern and occasional membranous staining was observed in a majority of the malignant cells. Several cases of squamous cell carcinomas, malignant lymphomas, urothelial, renal and stomach cancers were weakly stained or negative.
This gene encodes a lysosomal acetyltransferase, which is one of several enzymes involved in the lysosomal degradation of heparin sulfate. Mutations in this gene are associated with Sanfilippo syndrome C, one type of the lysosomal storage disease mucopolysaccaridosis III, which results from impaired degradation of heparan sulfate. [provided by RefSeq, Jan 2009]
