PMP2 (peripheral myelin protein 2) is a small, basic cytoplasmic protein that functions as a lipid-binding protein in peripheral myelin 1. The protein localizes to the cytoplasm and may play a role in lipid transport within Schwann cells, with potential cholesterol binding capacity. The human PMP2 gene spans approximately 8 kb on chromosome 8.3-q22.1 and consists of four exons with a TATA-like box in its 5'-flanking region 1. PMP2 is clinically significant as mutations in this gene cause Charcot-Marie-Tooth disease type 1G (CMT1G), a rare autosomal dominant demyelinating peripheral neuropathy 2. Affected patients typically present with childhood-onset distal muscle weakness, hypoesthesia, foot deformity, and areflexia, with slow progression predominantly affecting lower limbs 2. The protein appears to be part of myelination gene programs, as evidenced by its involvement in glial differentiation pathways 3. Beyond peripheral neuropathy, PMP2 expression changes have been observed in brain disorders, with reduced expression noted in suicide cases and potential diagnostic relevance in Alzheimer's disease through extracellular vesicles 45. However, pathogenic PMP2 variants appear to be rare in some populations, including Chinese CMT patients 6.