DISEASES

Disease-gene associations mined from literature

Literature on AMDHD2

AMDHD2 [ENSP00000391596]

N-acetylglucosamine-6-phosphate deacetylase; Hydrolyzes the N-glycolyl group from N-glycolylglucosamine 6- phosphate (GlcNGc-6-P) 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; Belongs to the metallo-dependent hydrolases superfamily. NagA family.

Synonyms:  AMDHD2,  AMDHD2p,  hAMDHD2,  A0A3B3IU33,  H3BSD5 ...

Linkouts:  STRING  Pharos  UniProt