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Homo sapiens peripheral myelin protein 22 (PMP22), transcript variant 2, mRNA.


Clone ID Definition Vector Stock Status Price *Turnaround time Order
OHu16691 Homo sapiens peripheral myelin protein 22 (PMP22), transcript variant 2, mRNA. pcDNA3.1+-DYK In-stock $99.00 5-7
OHu16691C Homo sapiens peripheral myelin protein 22 (PMP22), transcript variant 2, mRNA. Customized vector In-stock $149.00 5-7

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Sequence Information ORF Nucleotide Sequence
Protein sequence
Vector pcDNA3.1+-DYK or customized vector
Clone information Clone Map
Tag on pcDNA3.1+-DYK N terminal DYKDDDK tags
ORF Insert Method CloneEZ® Seamless cloning technology
RefSeq Version NM_153321.2, 527317416
Length 483 bp
Structure linear
Update Date 20-APR-2014
Organism Homo sapiens (human)
Definition Homo sapiens peripheral myelin protein 22 (PMP22), transcript variant 2, mRNA.
Product peripheral myelin protein 22
Comment

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].


Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Variants 1, 2, 3 ,4, and 5 encode the same protein.

RefSeq NP_696996.1
CDS 196..678
Misc Feature(1)18
Misc Feature(2)175..177
Misc Feature(3)196..654
Misc Feature(4)196..654
Misc Feature(5)199..288
Misc Feature(6)316..318
Misc Feature(7)388..468
Misc Feature(8)481..552
Misc Feature(9)595..663
Exon (1)1..161
Gene:PMP22
Gene Synonym:CMT1A; CMT1E; DSS; GAS-3; HMSNIA; HNPP; Sp110
Exon (2)162..273
Gene:PMP22
Gene Synonym:CMT1A; CMT1E; DSS; GAS-3; HMSNIA; HNPP; Sp110
Exon (3)274..373
Gene:PMP22
Gene Synonym:CMT1A; CMT1E; DSS; GAS-3; HMSNIA; HNPP; Sp110
Exon (4)374..514
Gene:PMP22
Gene Synonym:CMT1A; CMT1E; DSS; GAS-3; HMSNIA; HNPP; Sp110
Exon (5)515..1818
Gene:PMP22
Gene Synonym:CMT1A; CMT1E; DSS; GAS-3; HMSNIA; HNPP; Sp110
Translation MLLLLLSIIVLHVAVLVLLFVSTIVSQWIVGNGHATDLWQNCSTSSSGNVHHCFSSSPNE WLQSVQATMILSIIFSILSLFLFFCQLFTLTKGGRFYITGIFQILAGLCVMSAAAIYTVR HPEWHLNSDYSYGFAYILAWVAFPLALLSGVIYVILRKRE
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Position Chain Variation Link
complement(7)-dbSNP:
complement(7)-g, adbSNP:368241011
complement(94..95)-, cdbSNP:35281682
complement(109)-g, cdbSNP:192617032
complement(136)-t, cdbSNP:138538875
complement(169)-dbSNP:
complement(169)-t, gdbSNP:371965531
complement(178)-c, adbSNP:192086569
complement(190)-c, adbSNP:369779295
complement(220)-t, cdbSNP:138515303
231+a, cdbSNP:104894622
242+c, tdbSNP:104894617
260+c, tdbSNP:104894625
complement(264)-g, cdbSNP:376847762
complement(267)-t, gdbSNP:371373574
277+dbSNP:
277+c, tdbSNP:104894626
complement(282)-g, adbSNP:201192820
complement(283)-t, cdbSNP:377335295
complement(290)-t, cdbSNP:373322590
305+a, tdbSNP:104894627
complement(325)-t, cdbSNP:112651887
complement(347)-t, cdbSNP:368908933
complement(372)-g, adbSNP:376797385
394+a, c, gdbSNP:104894623
401+a, tdbSNP:104894620
410+c, tdbSNP:104894621
431+c, gdbSNP:104894618
451+a, cdbSNP:11545341
complement(461)-t, gdbSNP:189205303
complement(463)-g, cdbSNP:147114400
complement(470)-t, cdbSNP:112232836
476..477+, gdbSNP:80338763
complement(511)-t, cdbSNP:368223794
complement(537)-dbSNP:
complement(537)-t, cdbSNP:201871607
complement(539)-g, adbSNP:148822354
complement(561)-c, adbSNP:372723732
complement(576)-g, adbSNP:369477577
complement(591)-g, adbSNP:74361095
complement(592)-t, cdbSNP:140763467
complement(598)-t, cdbSNP:141094419
complement(602)-t, gdbSNP:375449671
complement(618)-c, adbSNP:144077495
complement(625)-t, gdbSNP:201255121
643+g, tdbSNP:104894624
664+c, tdbSNP:28936682
complement(681)-g, adbSNP:373690370
complement(686)-t, adbSNP:199650994
complement(704)-g, adbSNP:200563670
complement(711)-t, cdbSNP:201128796
737+a, cdbSNP:13422
753+a, gdbSNP:11545342
complement(793..797)-, gtttgdbSNP:112829799
complement(851)-g, adbSNP:117277951
complement(878)-c, adbSNP:142106420
complement(883)-t, gdbSNP:189734097
906+a, gdbSNP:1804193
complement(1034)-c, adbSNP:373020223
1204+, tdbSNP:16418
complement(1205..1206)-, agdbSNP:71699667
complement(1220)-g, adbSNP:184928176
complement(1255)-t, cdbSNP:7538
complement(1338..1340)-, tgtdbSNP:371508374
complement(1377)-g, adbSNP:181257692
complement(1461)-t, adbSNP:375638809
1499+c, gdbSNP:1803629
1506+a, gdbSNP:13027
1563+c, tdbSNP:1804192
1590+c, tdbSNP:149070440
complement(1608)-g, adbSNP:201970368
complement(1705)-t, adbSNP:189748556
1789+g, tdbSNP:7415
complement(1798)-g, adbSNP:11654383
Gene SymbolPMP22
Gene SynonymCMT1A; CMT1E; DSS; GAS-3; HMSNIA; HNPP; Sp110
Chromosome17
Locus Map17p12
Title Coexistence of peripheral myelin protein 22 and dystrophin mutations in a chinese boy .
Author Wang Z, Cui F, Chen D, Pu C, Chen Z, Yang F, Wu H and Huang X.
Journal Muscle Nerve 48 (6), 979-983 (2013)
Title Charcot-Marie-Tooth disease: genetic and clinical spectrum in a Spanish clinical series .
Author Sivera R, Sevilla T, Vilchez JJ, Martinez-Rubio D, Chumillas MJ, Vazquez JF, Muelas N, Bataller L, Millan JM, Palau F and Espinos C.
Journal Neurology 81 (18), 1617-1625 (2013)
Title Charcot-Marie-Tooth disease: frequency of genetic subtypes in a German neuromuscular center population .
Author Gess B, Schirmacher A, Boentert M and Young P.
Journal Neuromuscul. Disord. 23 (8), 647-651 (2013)
Title Regulation of tissue-specific expression of alternative peripheral myelin protein-22 (PMP22) gene transcripts by two promoters .
Author Suter U, Snipes GJ, Schoener-Scott R, Welcher AA, Pareek S, Lupski JR, Murphy RA, Shooter EM and Patel PI.
Journal J. Biol. Chem. 269 (41), 25795-25808 (1994)
Title Dejerine-Sottas syndrome associated with point mutation in the peripheral myelin protein 22 (PMP22) gene .
Author Roa BB, Dyck PJ, Marks HG, Chance PF and Lupski JR.
Journal Nat. Genet. 5 (3), 269-273 (1993)
Title Hereditary Neuropathy with Liability to Pressure Palsies .
Author Bird,T.D.
Journal (in) Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH and Stephens K (Eds.); GENEREVIEWS(R); (1993)
Title Charcot-Marie-Tooth Neuropathy Type 1 .
Author Bird,T.D.
Journal (in) Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH and Stephens K (Eds.); GENEREVIEWS(R); (1993)
Title Localization of PMP-22 gene (candidate gene for the Charcot-Marie-Tooth disease 1A) to band 17p11.2 by direct R-banding fluorescence in situ hybridization .
Author Takahashi E, Takeda O, Himoro M, Nanao K, Takada G and Hayasaka K.
Journal Jpn. J. Hum. Genet. 37 (4), 303-306 (1992)
Title DNA duplication associated with Charcot-Marie-Tooth disease type 1A .
Author Lupski JR, de Oca-Luna RM, Slaugenhaupt S, Pentao L, Guzzetta V, Trask BJ, Saucedo-Cardenas O, Barker DF, Killian JM, Garcia CA, Chakravarti A and Patel PI.
Journal Cell 66 (2), 219-232 (1991)
Title Diagnostic evaluation of the juvenile offender: toward the clarification of often overlooked psychopathology .
Author Lewis,D.O.
Journal Child Psychiatry Hum Dev 6 (4), 198-213 (1976)

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