Table 2. Peripheral myelin proteins identified in PNS myelin involved in neuropathological diseases.
Proteins mass-spectrometically identified in peripheral myelin were analyzed regarding the involvement of the ortholog human gene in neuropathological diseases. PMP22 was added, though it was not identified by MS analyses due to its unfavorable distribution of tryptic cleavage sites. CMT, Charcot-Marie-Tooth disease; DHMN, distal hereditary motor neuropathy; DI-CMTC, dominant intermediate CMTC; DFN, X-linked deafness; HMN, hereditary motor neuropathy; HSAN, hereditary sensory and autonomic neuropathy; HNA, hereditary sensory and autonomic neuropathy; OMIM, Online Mendelian Inheritance in Man; PHARC, polyneuropathy, hearing loss, ataxia, retinitis pigmentosa and cataract; SCA, spinocerebellar ataxia; SPG, spastic paraplegia.
| Protein name | Gene name | OMIM# | Gene locus | Neuropathy |
|---|---|---|---|---|
| Monoacylglycerol lipase ABHD12 | ABHD12 | 613599 | 20p11.21 | Pharc |
| Apoptosis-inducing factor 1 | AIFM1 | 300169 | Xq26.1 | CMTX4, DFNX5 |
| Na+/K+ -transporting ATPase α1 | ATP1A1 | 182310 | 1p13.1 | CMT2DD |
| Cytochrome c oxidase subunit 6A1 | COX6A1 | 602072 | 12q24.31 | CMTRID |
| Dystrophin-related protein 2 | DRP2 | 300052 | Xq22.1 | CMTX |
| Dynactin subunit 1 | DCTN1 | 601143 | 2p13.1 | DHMN7B |
| Dynamin 2 | DNM2 | 602378 | 19p13.2 | CMT2M, CMTDIB |
| Cytoplasmic dynein 1 heavy chain 1 | DYNC1H1 | 600112 | 14q32.31 | CMT20, SMALED1 |
| E3 SUMO-protein ligase | EGR2 | 129010 | 10q21.3 | CMT1D, CMT3, CMT4E |
| Glycine-tRNA ligase | GARS (Gart) | 600287 | 7p14.3 | CMT2D, HMN5A |
| Gap junction ß1 protein/Cx32 | GJB1 | 304040 | Xq13.1 | CMTX1 |
| Guanine nucleotide-binding protein ß4 | GNB4 | 610863 | 3q26.33 | CMTDIF |
| Histidine triad nucleotide-binding protein 1 | HINT1 | 601314 | 5q23.3 | NMAN |
| Hexokinase 1 | HK1 | 142600 | 10q22.1 | CMT4G |
| Heat shock protein ß1 | HSPB1 | 602195 | 7q11.23 | CMT2F, DHMN2B |
| Kinesin heavy chain isoform 5A | KIF5A | 602821 | 12q13.3 | SPG10 |
| Prelamin A/C | LMNA | 150330 | 1q22 | CMT2B1 |
| Neprilysin | MME | 120520 | 3q25.2 | CMT2T, SCA43 |
| Myelin protein zero/P0 | MPZ | 159440 | 1q23.3 | CHN2,CMT1B, CMT2I, CMT2J,CMT3, CMTDID, Roussy-Levy syndrome |
| Myotubularin-related protein 2 | MTMR2 | 603557 | 11q21 | CMT4B1 |
| Alpha-N-acetylglucosaminidase | NAGLU (NAGA) | 609701 | 17q21.2 | CMT2V |
| NDRG1, N-myc downstream regulated | NDRG1 | 605262 | 8q24.22 | CMT4D |
| Neurofilament heavy polypeptide | NEFH | 162230 | 22q12.2 | CMT2CC |
| Neurofilament light polypeptide | NEFL | 162280 | 8p21.2 | CMT2E, CMT1F, CMTDIG |
| Peripheral myelin protein 2 | PMP2 | 170715 | 8q21.13 | CMT1G |
| Peripheral myelin protein 22 | PMP22 | 601907 | 17p12 | CMT1A, CMT1E, CMT3, HNPP, Roussy-Levy syndrome |
| Ribose-phosphate pyrophosphokinase 1 | PRPS1 | 311850 | Xq22.3 | Arts syndrome, CMTX5, DFNX1 |
| Periaxin | PRX | 605725 | 19q13.2 | CMT4F, CMT3 |
| Ras-related protein Rab 7a | RAB7A | 602298 | 3q21.3 | CMT2B |
| Septin 9 | SEPT9 | 604061 | 17q25.3 | HNA |
| Transitional ER-ATPase | VCP | 601023 | 9p13.3 | CMT2Y |
| Tryptophan-tRNA ligase, cytoplasmic | WARS | 191050 | 14q32.32 | HMN9 |
| Tyrosine-tRNA ligase, cytoplasmic | YARS | 603623 | 1p35.1 | DI-CMTC |