Synonyms:ENTREZ:138050, HGNAT, HGNC:26527, HGSNAT, MIM:610453, MPS3C, NM_001363227, NM_001363228, NM_001363229, NM_152419, NP_001350156, NP_001350157, NP_001350158, NP_689632, RP73, TMEM76, XM_005273409, XM_005273411, XM_005273412, XP_005273466, XP_005273468, XP_005273469, heparan-alpha-glucosaminide N-acetyltransferase
Omim:OMIM:610453
Id:ENSG00000165102
Hgnc:HGNC:26527
Description:heparan-alpha-glucosaminide N-acetyltransferase
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]