Disease-gene associations mined from literature

Literature associating HEXA and hypophosphatemic nephrolithiasis/osteoporosis 2

HEXA [ENSP00000268097]

N-acetyl-beta-glucosaminidase subunit alpha; Responsible for the degradation of GM2 gangliosides, and a variety of other molecules containing terminal N-acetyl hexosamines, in the brain and other tissues. The form B is active against certain oligosaccharides. The form S has no measurable activity; Belongs to the glycosyl hydrolase 20 family.

Synonyms:  B4DKE7,  G3XL83,  H3BP20,  H3BQ04,  H3BRP6 ...

Linkouts:  STRING  Pharos  UniProt  OMIM