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Reviewed January 2010
What is the official name of the PMP22 gene?
The official name of this gene is “peripheral myelin protein 22.”
PMP22 is the gene's official symbol. The PMP22 gene is also known by other names, listed below.
Read more about gene names and symbols on the About page.
What is the normal function of the PMP22 gene?
The PMP22 gene provides instructions for making a protein called peripheral myelin protein 22. This protein is found in the peripheral nervous system, which connects the brain and spinal cord to muscles and to sensory cells that detect sensations such as touch, pain, heat, and sound.
Peripheral myelin protein 22 is a component of myelin, a protective substance that covers nerves and promotes the efficient transmission of nerve impulses. The protein is produced primarily by specialized cells called Schwann cells that wrap around and insulate nerves. Within Schwann cells, peripheral myelin protein 22 plays a crucial role in the development and maintenance of myelin. The PMP22 gene may also play a role in Schwann cell growth and differentiation (the process by which cells mature to carry out specific functions).
Before it becomes part of myelin, newly produced peripheral myelin protein 22 is processed and packaged in specialized cell structures called the endoplasmic reticulum and the Golgi apparatus. Completion of these processing and packaging steps is critical for proper myelin function.
How are changes in the PMP22 gene related to health conditions?
Where is the PMP22 gene located?
Cytogenetic Location: 17p12
Molecular Location on chromosome 17: base pairs 15,229,776 to 15,265,356
The PMP22 gene is located on the short (p) arm of chromosome 17 at position 12.
More precisely, the PMP22 gene is located from base pair 15,229,776 to base pair 15,265,356 on chromosome 17.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about PMP22?
You and your healthcare professional may find the following resources about PMP22 helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
What other names do people use for the PMP22 gene or gene products?
See How are genetic conditions and genes named? in the Handbook.
Where can I find general information about genes?
The Handbook provides basic information about genetics in clear language.
These links provide additional genetics resources that may be useful.
What glossary definitions help with understanding PMP22?
acids ; alanine ; amino acid ; cell ; deletion ; demyelination ; differentiation ; endoplasmic reticulum ; gene ; gene dosage ; Golgi apparatus ; hereditary ; mutation ; nervous system ; neuropathy ; peripheral ; peripheral nerves ; peripheral nervous system ; proline ; protein ; Schwann cells ; sensitivity ; sensory cells
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (8 links)