DISEASES

Disease-gene associations mined from literature

Literature associating NAGK and GNE myopathy

NAGK [ENSP00000477639]

N-acetyl-D-glucosamine kinase; Converts endogenous N-acetylglucosamine (GlcNAc), a major component of complex carbohydrates, from lysosomal degradation or nutritional sources into GlcNAc 6-phosphate. Involved in the N-glycolylneuraminic acid (Neu5Gc) degradation pathway: although human is not able to catalyze formation of Neu5Gc due to the inactive CMAHP enzyme, Neu5Gc is present in food and must be degraded. Also has ManNAc kinase activity.

Synonyms:  NAGK,  C9JEV6,  C9JMR7,  E9PPU6,  H0YC94 ...

Linkouts:  STRING  Pharos  UniProt