Disease-gene associations mined from literature

Literature associating PMM1 and immunodeficiency 24

PMM1 [ENSP00000216259]

Phosphomannomutase 1; Involved in the synthesis of the GDP-mannose and dolichol-phosphate-mannose required for a number of critical mannosyl transfer reactions. In addition, may be responsible for the degradation of glucose-1,6-bisphosphate in ischemic brain; Belongs to the eukaryotic PMM family.

Synonyms:  PMM1p,  hPMM1,  A0A024R1U5,  F8WFD5,  PMM1-001 ...

Linkouts:  STRING  Pharos  UniProt  OMIM