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PMP22 peripheral myelin protein 22 [Homo sapiens (human)]


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_000304 Homo sapiens peripheral myelin protein 22 (PMP22), transcript variant 1, mRNA. GenEZ ORF Cloning In-stock $308.00 $259.00 10
NM_001281455 Homo sapiens peripheral myelin protein 22 (PMP22), transcript variant 4, mRNA. GenEZ ORF Cloning On-demand $399.00 14
NM_001281456 Homo sapiens peripheral myelin protein 22 (PMP22), transcript variant 5, mRNA. GenEZ ORF Cloning On-demand $399.00 14
NM_153321 Homo sapiens peripheral myelin protein 22 (PMP22), transcript variant 2, mRNA. GenEZ ORF Cloning In-stock $308.00 $259.00 10
NM_153322 Homo sapiens peripheral myelin protein 22 (PMP22), transcript variant 3, mRNA. GenEZ ORF Cloning In-stock $308.00 $259.00 10

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Related Services

Gene Symbol PMP22
Entrez Gene ID 5376
Full Name peripheral myelin protein 22
Synonyms CMT1A, CMT1E, DSS, GAS-3, HMSNIA, HNPP, Sp110
General protein information
Preferred Names
peripheral myelin protein 22
Names
peripheral myelin protein 22
growth arrest-specific protein 3
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

17

17p12

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].
Disorder

MIM: 601097

Charcot-Marie-Tooth disease, type 1A, 118220 (3); Dejerine-Sottas

mRNA Protein Product Sequence Price Select
NM_000304, 527317415 NP_000295, 4505907 peripheral myelin protein 22 ORF Sequence $159.00
NM_001281455, 527317418 NP_001268384, 527317419 peripheral myelin protein 22 ORF Sequence $250.00
NM_001281456, 527317346 NP_001268385, 527317347 peripheral myelin protein 22 ORF Sequence $250.00
NM_153321, 527317416 NP_696996, 24430163 peripheral myelin protein 22 ORF Sequence $159.00
NM_153322, 527317417 NP_696997, 24430165 peripheral myelin protein 22 ORF Sequence $159.00
WikiPathways
WP2064Neural Crest Differentiation
Pathway Interaction Database
a6b1_a6b4_integrin_pathwaya6b1 and a6b4 Integrin signaling
Homo sapiens (human)PMP22NP_000295.1
Pan troglodytes (chimpanzee)PMP22XP_001162361.1
Macaca mulatta (Rhesus monkey)PMP22XP_001082754.1
Canis lupus familiaris (dog)PMP22XP_003434676.1
Bos taurus (cattle)PMP22NP_001094626.1
Mus musculus (house mouse)Pmp22NP_032911.1
Rattus norvegicus (Norway rat)Pmp22NP_058733.1
Gallus gallus (chicken)PMP22NP_001264001.1
Danio rerio (zebrafish)pmp22bNP_001035445.1
Xenopus (Silurana) tropicalis (western clawed frog)pmp22NP_001025552.1
Process
IDNameEvidence
GO:0007268synaptic transmissionTAS
GO:0007422peripheral nervous system developmentTAS
GO:0008219cell deathIEA
GO:0008285negative regulation of cell proliferationIEA
GO:0010977negative regulation of neuron projection developmentIEA
GO:0032288myelin assemblyIEA
Component
IDNameEvidence
GO:0005886plasma membraneIEA
GO:0005923tight junctionIEA
GO:0016021integral component of membraneIEA
GO:0043218compact myelinIEA
Function
IDNameEvidence
GO:0005515protein bindingIPI
GeneCards PMP22
UniProt Q6FH25, Q01453
Vega OTTHUMG00000058960
MIM 601097
Ensembl ENSG00000109099
HGNC 9118
HPRD 03059

GeneRIFs: Gene References Into Functions What's a GeneRIF?

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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