The pmp22 gene encodes a tetraspan membrane protein localized to the plasma membrane and compact myelin. It functions in peripheral nervous system myelination, cell adhesion, and formation of the myeli...[+]

The pmp22 gene encodes a tetraspan membrane protein localized to the plasma membrane and compact myelin. It functions in peripheral nervous system myelination, cell adhesion, and formation of the myelin sheath. Expression is detected in the spinal cord and cranial ganglia. [-]

             hereditary neuropathy with liability to pressure palsies
             Charcot-Marie-Tooth disease type 1A
             Charcot-Marie-Tooth disease type 1E
             Guillain-Barre syndrome

          ROUSSY-LEVY HEREDITARY AREFLEXIC DYSTASIA
          CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1A; CMT1A
          CHARCOT-MARIE-TOOTH DISEASE AND DEAFNESS
          NEUROPATHY, HEREDITARY, WITH LIABILITY TO PRESSURE PALSIES; HNPP
          GUILLAIN-BARRE SYNDROME, FAMILIAL; GBS

ClinVar, ClinGen, MalaCards, KEGG Disease, DECIPHER, COSMIC, MARRVEL, GTR, DisGeNET, dbVAR, GHR, gnomAD