| Protein Name | peripheral myelin protein 22 |
|---|---|
| Organism | Mus musculus |
| Gene ID | 18858 |
| Gene Symbol | Pmp22 |
| UniProt | P16646 (PMP22_MOUSE), Q5SXS3 (Q5SXS3_MOUSE) |
| Relationships |
Total Number of functionally related compound(s) :
69
Total Number of Articles : 59 |
Description |
peripheral myelin protein 22 |
| Gene Summary |
Enables cytoskeletal motor activity and protein serine/threonine kinase inhibitor activity. Acts upstream of or within several processes, including nervous system development; regulation of apoptotic process; and regulation of gene expression. Located in several cellular components, including cell surface; compact myelin; and perinuclear region of cytoplasm. Part of integrin complex and laminin complex. Is expressed in several structures, including alimentary system; intraembryonic coelom; lung; musculoskeletal system; and nervous system. Used to study Charcot-Marie-Tooth disease type 1A; Charcot-Marie-Tooth disease type 1E; Charcot-Marie-Tooth disease type 3; and hereditary neuropathy with liability to pressure palsies. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease (multiple); Guillain-Barre syndrome; and hereditary neuropathy with liability to pressure palsies. Orthologous to human PMP22 (peripheral myelin protein 22). [provided by Alliance of Genome Resources, Jun 2025] |
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