Sequence in raw or FASTA format:
PMP22 peripheral myelin protein 22 [Homo sapiens (human)]
|Entrez Gene ID||5376|
|Full Name||peripheral myelin protein 22|
|Synonyms||CMT1A, CMT1E, DSS, GAS-3, HMSNIA, HNPP, Sp110|
|General protein information||
|Organism||Homo sapiens (human)|
|Summary||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].|
Charcot-Marie-Tooth disease, type 1A, 118220 (3); Dejerine-Sottas
|WP2064||Neural Crest Differentiation|
|a6b1_a6b4_integrin_pathway||a6b1 and a6b4 Integrin signaling|
|Homo sapiens (human)||PMP22||NP_000295.1|
|Pan troglodytes (chimpanzee)||PMP22||XP_001162361.1|
|Macaca mulatta (Rhesus monkey)||PMP22||XP_001082754.1|
|Canis lupus familiaris (dog)||PMP22||XP_003434676.1|
|Bos taurus (cattle)||PMP22||NP_001094626.1|
|Mus musculus (house mouse)||Pmp22||NP_032911.1|
|Rattus norvegicus (Norway rat)||Pmp22||NP_058733.1|
|Gallus gallus (chicken)||PMP22||NP_001264001.1|
|Danio rerio (zebrafish)||pmp22b||NP_001035445.1|
|Xenopus (Silurana) tropicalis (western clawed frog)||pmp22||NP_001025552.1|
|GO:0007422||peripheral nervous system development||TAS|
|GO:0008285||negative regulation of cell proliferation||IEA|
|GO:0010977||negative regulation of neuron projection development||IEA|
|GO:0016021||integral component of membrane||IEA|
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.
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