DISEASES

Disease-gene associations mined from literature

Literature associating HGSNAT and beta-mannosidosis

HGSNAT [ENSP00000368965]

Heparan-alpha-glucosaminide N-acetyltransferase; Lysosomal acetyltransferase that acetylates the non- reducing terminal alpha-glucosamine residue of intralysosomal heparin or heparan sulfate, converting it into a substrate for luminal alpha-N-acetyl glucosaminidase.

Synonyms:  HGSNAT,  E5RGH7,  E5RH11,  E5RJC4,  E5RJN0 ...

Linkouts:  STRING  Pharos  UniProt  OMIM