Aliases for PMP2 Gene
External Ids for PMP2 Gene
Previous GeneCards Identifiers for PMP2 Gene
The protein encoded by this gene localizes to myelin sheaths of the peripheral nervous system. The encoded protein can bind both the membrane layers of the sheaths and monomeric lipids, and is thought to provide stability to the sheath. A defect in this gene was shown to be a cause of dominant demyelinating CMT neuropathy. [provided by RefSeq, Jan 2017]
GeneCards Summary for PMP2 Gene
PMP2 (Peripheral Myelin Protein 2) is a Protein Coding gene. Diseases associated with PMP2 include Pmp2-Related Charcot-Marie-Tooth Disease Type 1 and Neuritis. Gene Ontology (GO) annotations related to this gene include transporter activity and cholesterol binding. An important paralog of this gene is FABP9.
UniProtKB/Swiss-Prot for PMP2 Gene
May play a role in lipid transport protein in Schwann cells. May bind cholesterol.