DISEASES

Disease-gene associations mined from literature

Literature associating PGM2 and otopalatodigital syndrome spectrum disorder

PGM2 [ENSP00000371393]

Phosphoglucomutase-2; Catalyzes the conversion of the nucleoside breakdown products ribose-1-phosphate and deoxyribose-1-phosphate to the corresponding 5- phosphopentoses. May also catalyze the interconversion of glucose-1- phosphate and glucose-6-phosphate. Has low glucose 1,6-bisphosphate synthase activity; Belongs to the phosphohexose mutase family.

Synonyms:  PGM2,  PGM2p,  hPGM2,  E7ENQ8,  E9PD70 ...

Linkouts:  STRING  Pharos  UniProt  OMIM