Disease-gene associations mined from literature

Literature associating DRP2 and deafness-dystonia-optic neuronopathy syndrome

DRP2 [ENSP00000378635]

Dystrophin related protein 2; Required for normal myelination and for normal organization of the cytoplasm and the formation of Cajal bands in myelinating Schwann cells. Required for normal PRX location at appositions between the abaxonal surface of the myelin sheath and the Schwann cell plasma membrane. Possibly involved in membrane- cytoskeleton interactions of the central nervous system; Zinc fingers ZZ-type

Synonyms:  DRP2,  DRP2p,  hDRP2,  A0A024RCH3,  DRP2-001 ...

Linkouts:  STRING  Pharos  UniProt  OMIM