Table 1.
Summary of IPN-associated genes, their clinical phenotype and the stage they impact the autophagy pathway.
| Affected autophagy step/type | IPN-associated gene | Clinical phenotype |
|---|---|---|
| Initiation | PMP22 (peripheral myelin protein 22) | CMT1A, CMT1E, HNPP |
| VAPB (VAMP associated protein B) | Late onset SMA, ALS8 | |
| WNK1 (WNK lysine deficient protein kinase 1) | HSAN-IIA | |
| BSCL2 (Seipin) | dHMN-V | |
| LRSAM1 (leucine rich repeat and sterile alpha motif containing 1) | CMT2P | |
| TRPV4 (transient receptor potential cation channel subfamily V member 4) | CMT2C, congenital distal SMA | |
| NDRG1 (N-myc downstream regulated 1) | CMT4D | |
| DNAJB2/HSJ1 [DnaJ heat shock protein family (Hsp40) member B2] | AR-dHMN | |
| NEFL (neurofilament light) | CMT2E, CMT1F | |
| Autophagosome formation and expansion | TrkA (NTRK1) (neurotrophic receptor tyrosine kinase 1) | HSAN-IV, CIPA |
| DNM2 (dynamin2) | DI-CMTB | |
| KIF1A (kinesin family member 1A) | HSAN-IIC | |
| LITAF (lipopolysaccharide-induced TNF factor) | CMT1C | |
| SH3TC2 (SH3 domain and tetratricopeptide repeats 2) | CMT4C | |
| TECPR2 (tectonin beta-propeller repeat containing 2) | HSAN-III, HSP | |
| Transport of autophagosomes | DCTN1 (dynactin subunit 1) | dHMN-VIIb |
| DST (dystonin) | HSAN-VI | |
| Lysosomal fusion and degradation | RAB7 (member RAS oncogene family) | CMT2B |
| CCT5 (chaperonin containing TCP-1 subunit 5) | HSNSP | |
| FIG4 (FIG4 phosphoinositide 5-phosphatase) | CMT4J | |
| MTMR2; MTMR13 (myotubularin-related proteins) | CMT4B1, CMT4B2 | |
| VCP (valosin containing protein) | CMT2Y, ALS8, IBMPFD | |
| HSPB8 (heat shock protein B8) | CMT2L, dHMN-I | |
| Mitophagy | MFN2 (mitofusin 2) | CMT2A |
| GDAP1 (ganglioside induced differentiation associated protein 1) | CMT4A, AR-CMT2, CMT2K | |
| Reticulophagy | FAM134B (family with sequence similarity 134 member B) | HSAN-IIB |