SAB1402314
Monoclonal Anti-PMP22 antibody produced in mouse
clone 3G10, purified immunoglobulin, buffered aqueous solution
Synonym(s):
CMT1A, CMT1E, DSS, GAS-3, HMSNIA, HNPP, MGC20769, Sp110
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About This Item
UNSPSC Code:
12352203
NACRES:
NA.41
biological source
mouse
Quality Level
conjugate
unconjugated
antibody form
purified immunoglobulin
antibody product type
primary antibodies
clone
3G10, monoclonal
form
buffered aqueous solution
mol wt
antigen ~35.9 kDa
species reactivity
human
technique(s)
indirect ELISA: suitable
isotype
IgG2bκ
NCBI accession no.
UniProt accession no.
shipped in
dry ice
storage temp.
−20°C
target post-translational modification
unmodified
Gene Information
human ... PMP22(5376)
General description
This gene encodes an integral membrane protein that is a major component of myelin in the peripheral nervous system. 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 of this gene results in three transcript variants that encode the same protein. (provided by RefSeq)
Immunogen
PMP22 (AAH19040, 25 a.a. ~ 114 a.a) partial recombinant protein with GST tag. MW of the GST tag alone is 26 KDa.
Sequence
VSQWIVGNGHATDLWQNCSTSSSGNVHHCFSSSPNEWLQSVQATMILSIIFSILSLFLFFCQLFTLTKGGRFYITGIFQILAGLCVMSAA
Sequence
VSQWIVGNGHATDLWQNCSTSSSGNVHHCFSSSPNEWLQSVQATMILSIIFSILSLFLFFCQLFTLTKGGRFYITGIFQILAGLCVMSAA
Biochem/physiol Actions
Peripheral myelin protein 22 (PMP22) plays a vital role in myelination during peripheral nerve development. It also has a role in cell-cell interactions, cell proliferation, maintenance of axons and the determination of myelin thickness and stability. Aberrations or mutations in the PMP22 gene lead to heritable demyelinating peripheral neuropathies, such as Charcot-Marie-tooth disease type IA (CMT1A) and Dejerine-Sottas syndrome. Overexpression of PMP22 might contribute to the development of chronic myeloid leukemia (CML).
Physical form
Solution in phosphate buffered saline, pH 7.4
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Storage Class
10 - Combustible liquids
wgk_germany
WGK 1
flash_point_f
Not applicable
flash_point_c
Not applicable
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Isolation and mapping to 17p12-13 of the human homologous of the murine growth arrest specific Gas-3 gene.
Martinotti A
Human Molecular Genetics, 1(5), 331-334 (1992)
Peripheral myelin protein 22 is a constituent of intercellular junctions in epithelia.
Notterpek L
Proceedings of the National Academy of Sciences of the USA, 14404-14409 (2001)
Dejerine-Sottas syndrome associated with point mutation in the peripheral myelin protein 22 (PMP22) gene.
Roa BB
Nature Genetics, 5(3), 269-273 (1993)
Hypermyelination and demyelinating peripheral neuropathy in Pmp22-deficient mice.
Adlkofer K
Nature Genetics, 11(3), 274-280 (1995)
Many facets of the peripheral myelin protein PMP22 in myelination and disease.
Naef R and Suter U
Microscopy Research and Technique, 41(5), 359-371 (1998)
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