Peripheral myelin protein 22
Encyclopedia
Peripheral myelin protein 22, also known as PMP22, is a protein
which in humans is encoded by the PMP22 gene
. Alternative splicing
of this gene results in three transcript variants that encode the same protein.
encoded by this gene is a hydrophobic, tetraspan glycoprotein
expressed mainly in Schwann cell
s and is a major component of compact myelin
in the peripheral nervous system
.
type IA, Dejerine-Sottas disease, and hereditary neuropathy with liability to pressure palsies (HNPP).
with Myelin protein zero
.
Protein
Proteins are biochemical compounds consisting of one or more polypeptides typically folded into a globular or fibrous form, facilitating a biological function. A polypeptide is a single linear polymer chain of amino acids bonded together by peptide bonds between the carboxyl and amino groups of...
which in humans is encoded by the PMP22 gene
Gene
A gene is a molecular unit of heredity of a living organism. It is a name given to some stretches of DNA and RNA that code for a type of protein or for an RNA chain that has a function in the organism. Living beings depend on genes, as they specify all proteins and functional RNA chains...
. Alternative splicing
Alternative splicing
Alternative splicing is a process by which the exons of the RNA produced by transcription of a gene are reconnected in multiple ways during RNA splicing...
of this gene results in three transcript variants that encode the same protein.
Function
The integral membrane proteinIntegral membrane protein
An integral membrane protein is a protein molecule that is permanently attached to the biological membrane. Proteins that cross the membrane are surrounded by "annular" lipids, which are defined as lipids that are in direct contact with a membrane protein...
encoded by this gene is a hydrophobic, tetraspan glycoprotein
Glycoprotein
Glycoproteins are proteins that contain oligosaccharide chains covalently attached to polypeptide side-chains. The carbohydrate is attached to the protein in a cotranslational or posttranslational modification. This process is known as glycosylation. In proteins that have segments extending...
expressed mainly in Schwann cell
Schwann cell
Schwann cells or neurolemmocytes are the principal glia of the peripheral nervous system . Glial cells function to support neurons and in the PNS, also include satellite cells, olfactory ensheathing cells, enteric glia and glia that reside at sensory nerve endings, such as the Pacinian corpuscle...
s and is a major component of compact myelin
Myelin
Myelin is a dielectric material that forms a layer, the myelin sheath, usually around only the axon of a neuron. It is essential for the proper functioning of the nervous system. Myelin is an outgrowth of a type of glial cell. The production of the myelin sheath is called myelination...
in the peripheral nervous system
Peripheral nervous system
The peripheral nervous system consists of the nerves and ganglia outside of the brain and spinal cord. The main function of the PNS is to connect the central nervous system to the limbs and organs. Unlike the CNS, the PNS is not protected by the bone of spine and skull, or by the blood–brain...
.
Clinical significance
Various mutations of the gene are causes of Charcot-Marie-Tooth diseaseCharcot-Marie-Tooth disease
Charcot–Marie–Tooth disease- , known also as Morbus Charcot-Marie-Tooth, Charcot-Marie-Tooth neuropathy, hereditary motor and sensory neuropathy , hereditary sensorimotor neuropathy , or peroneal muscular atrophy, is an inherited disorder of nerves that takes different forms...
type IA, Dejerine-Sottas disease, and hereditary neuropathy with liability to pressure palsies (HNPP).
Interactions
Peripheral myelin protein 22 has been shown to interactProtein-protein interaction
Protein–protein interactions occur when two or more proteins bind together, often to carry out their biological function. Many of the most important molecular processes in the cell such as DNA replication are carried out by large molecular machines that are built from a large number of protein...
with Myelin protein zero
Myelin protein zero
Myelin protein zero is a glycoprotein associated with Charcot-Marie-Tooth disease and Dejerine-Sottas disease.-Interactions:Myelin protein zero has been shown to interact with Peripheral myelin protein 22.-Further reading:...
.