Aliases for PMP22 Gene
External Ids for PMP22 Gene
Previous GeneCards Identifiers for PMP22 Gene
This gene encodes an integral membrane protein that is a major component of myelin in the peripheral nervous system. Studies suggest two alternately used promoters drive tissue-specific expression. Various mutations of this gene are causes of Charcot-Marie-Tooth disease Type IA, Dejerine-Sottas syndrome, and hereditary neuropathy with liability to pressure palsies. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
GeneCards Summary for PMP22 Gene
PMP22 (Peripheral Myelin Protein 22) is a Protein Coding gene. Diseases associated with PMP22 include Charcot-Marie-Tooth Disease And Deafness and Charcot-Marie-Tooth Disease, Demyelinating, Type 1A. Among its related pathways are a6b1 and a6b4 Integrin signaling and Neural Crest Differentiation. An important paralog of this gene is EMP2.
UniProtKB/Swiss-Prot for PMP22 Gene
Might be involved in growth regulation, and in myelinization in the peripheral nervous system.