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


Clone ID RefSeq Accession Definition Vector Stock Status *Turnaround time Price Order
OHu16691 NM_153321 Homo sapiens peripheral myelin protein 22 (PMP22), transcript variant 2, mRNA. pcDNA3.1+-DYK In-stock 5-7 $99.00
OHu16691 NM_001281455 Homo sapiens peripheral myelin protein 22 (PMP22), transcript variant 4, mRNA. pcDNA3.1+-DYK On-demand 7-9 $159.00
OHu16691 NM_001281456 Homo sapiens peripheral myelin protein 22 (PMP22), transcript variant 5, mRNA. pcDNA3.1+-DYK On-demand 7-9 $159.00
OHu16691 NM_000304 Homo sapiens peripheral myelin protein 22 (PMP22), transcript variant 1, mRNA. pcDNA3.1+-DYK In-stock 5-7 $99.00
OHu16691 NM_153322 Homo sapiens peripheral myelin protein 22 (PMP22), transcript variant 3, mRNA. pcDNA3.1+-DYK In-stock 5-7 $99.00
OHu16691C NM_153321 Homo sapiens peripheral myelin protein 22 (PMP22), transcript variant 2, mRNA. Customized vector In-stock 5-7 $149.00
OHu16691C NM_001281455 Homo sapiens peripheral myelin protein 22 (PMP22), transcript variant 4, mRNA. Customized vector On-demand 7-9 $209.00
OHu16691C NM_001281456 Homo sapiens peripheral myelin protein 22 (PMP22), transcript variant 5, mRNA. Customized vector On-demand 7-9 $209.00
OHu16691C NM_000304 Homo sapiens peripheral myelin protein 22 (PMP22), transcript variant 1, mRNA. Customized vector In-stock 5-7 $149.00
OHu16691C NM_153322 Homo sapiens peripheral myelin protein 22 (PMP22), transcript variant 3, mRNA. Customized vector In-stock 5-7 $149.00

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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?

Interactant

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