DISEASES

Disease-gene associations mined from literature

Literature associating PCMTD2 and hypotrichosis-lymphedema-telangiectasia syndrome

PCMTD2 [ENSP00000307854]

protein-L-isoaspartate O-methyltransferase domain containing 2; Belongs to the methyltransferase superfamily. L- isoaspartyl/D-aspartyl protein methyltransferase family.

Synonyms:  PCMTD2,  PCMTD2p,  hPCMTD2,  F8W9F3,  Q9NV79 ...

Linkouts:  STRING  Pharos  UniProt