ganglioside-induced differentiation-associated protein 1 (GDAP1)

Function

• role in signal transduction responsible for ganglioside- induced neurite differentiation
• role in protecting myelin membranes against reactive oxygen- mediated damage

Structure

• belongs to the GST superfamily

Compartment

cytoplasm

Expression

• highly expressed in whole brain & spinal cord
• express in neurons & in Schwann cells

Pathology

• defects in GDAP1 are the cause of
  • Charcot-Marie-Tooth disease type 4A (CMT4A)
  • Charcot-Marie-Tooth disease type 2G CMT2G
  • Charcot-Marie-Tooth disease type 2K (CMT2K)
  • recessive intermediate Charcot-Marie-Tooth neuropathy A (CMTRIA)

Laboratory

• GDAP1 gene mutation

More general terms

• other protein

Database

• OMIM: https://mirror.omim.org/entry/214400
• OMIM: https://mirror.omim.org/entry/606598
• OMIM: https://mirror.omim.org/entry/607706
• OMIM: https://mirror.omim.org/entry/607831
• OMIM: https://mirror.omim.org/entry/608340
• UniProt: http://www.uniprot.org/uniprot/Q8TB36.html