DISEASES

Disease-gene associations mined from literature

Literature associating DRP2 and Charcot-Marie-Tooth disease type 2

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.

Synonyms:  DRP2,  DRP2p,  hDRP2,  A0A024RCH3,  F2Z3K8 ...

Linkouts:  STRING  Pharos  UniProt  OMIM