DISEASES

Disease-gene associations mined from literature

Literature associating MPPE1 and agnathia-otocephaly complex

MPPE1 [ENSP00000465894]

Metallophosphoesterase 1; Metallophosphoesterase required for transport of GPI-anchor proteins from the endoplasmic reticulum to the Golgi. Acts in lipid remodeling steps of GPI-anchor maturation by mediating the removal of a side-chain ethanolamine-phosphate (EtNP) from the second Man (Man2) of the GPI intermediate, an essential step for efficient transport of GPI- anchor proteins; Belongs to the metallophosphoesterase superfamily. MPPE1 family.

Synonyms:  MPPE1,  MPPE1p,  hMPPE1,  A0A075B777,  A0A0A0MR93 ...

Linkouts:  STRING  Pharos  UniProt  OMIM