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


RefSeq Accession Definition Services Price Order
NM_153321 Homo sapiens peripheral myelin protein 22 (PMP22), transcript variant 2, mRNA. ORF Sequence $159.00
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RefSeq Version NM_153321.1, 24430162
Length 1816 bp
Structure linear
Update Date 17-APR-2013
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. 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, Jul 2008].


Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Expression of this variant is predominant in Schwann cells, which express the myelin gene. Variants 1, 2, and 3 encode the same protein.

RefSeq NP_696996.1
CDS 179..661
Misc Feature(1)158..160
Misc Feature(2)158..160
Misc Feature(3)182..271
Misc Feature(4)182..271
Misc Feature(5)242..637
Misc Feature(6)299..301
Misc Feature(7)371..451
Misc Feature(8)464..535
Misc Feature(9)578..646
Exon (1)1..144
Gene:PMP22
Gene Synonym:CMT1A; CMT1E; DSS; GAS-3; HMSNIA; HNPP; Sp110
Exon (2)145..256
Gene:PMP22
Gene Synonym:CMT1A; CMT1E; DSS; GAS-3; HMSNIA; HNPP; Sp110
Exon (3)257..356
Gene:PMP22
Gene Synonym:CMT1A; CMT1E; DSS; GAS-3; HMSNIA; HNPP; Sp110
Exon (4)357..497
Gene:PMP22
Gene Synonym:CMT1A; CMT1E; DSS; GAS-3; HMSNIA; HNPP; Sp110
Exon (5)498..1799
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(78..79)-dbSNP:
complement(78..79)-, cdbSNP:35281682
complement(92)-g, cdbSNP:192617032
complement(119)-t, cdbSNP:138538875
complement(161)-c, adbSNP:192086569
complement(203)-t, cdbSNP:138515303
complement(214)-c, adbSNP:104894622
complement(225)-t, cdbSNP:104894617
complement(243)-t, cdbSNP:104894625
complement(260)-dbSNP:
complement(260)-t, cdbSNP:104894626
complement(265)-g, adbSNP:201192820
complement(288)-t, adbSNP:104894627
complement(308)-t, cdbSNP:112651887
complement(377)-g, c, adbSNP:104894623
complement(384)-t, adbSNP:104894620
complement(393)-t, cdbSNP:104894621
complement(414)-g, cdbSNP:104894618
complement(434)-c, adbSNP:11545341
complement(444)-t, gdbSNP:189205303
complement(446)-g, cdbSNP:147114400
complement(453)-t, cdbSNP:112232836
complement(459..460)-, gdbSNP:80338763
complement(520)-dbSNP:
complement(520)-t, cdbSNP:201871607
complement(522)-g, adbSNP:148822354
complement(531)-t, cdbSNP:104894619
complement(574)-g, adbSNP:74361095
complement(575)-t, cdbSNP:140763467
complement(581)-t, cdbSNP:141094419
complement(601)-c, adbSNP:144077495
complement(608)-t, gdbSNP:201255121
complement(626)-t, gdbSNP:104894624
complement(647)-t, cdbSNP:28936682
complement(669)-t, adbSNP:199650994
complement(687)-g, adbSNP:200563670
complement(694)-t, cdbSNP:201128796
complement(720)-c, adbSNP:13422
complement(736)-g, adbSNP:11545342
complement(776..780)-, gtttgdbSNP:112829799
complement(776)-, caaacdbSNP:3833123
complement(834)-g, adbSNP:117277951
complement(861)-c, adbSNP:142106420
complement(866)-t, gdbSNP:189734097
complement(889)-g, adbSNP:1804193
complement(1187)-, t, ctdbSNP:16418
complement(1188..1189)-, agdbSNP:71699667
complement(1189)-, agdbSNP:71815683
complement(1203)-g, adbSNP:184928176
complement(1238)-t, cdbSNP:7538
complement(1360)-g, adbSNP:181257692
complement(1482)-g, cdbSNP:1803629
complement(1489)-g, adbSNP:13027
complement(1546)-t, cdbSNP:1804192
complement(1573)-t, cdbSNP:149070440
complement(1591)-g, adbSNP:201970368
complement(1688)-t, adbSNP:189748556
complement(1772)-t, gdbSNP:7415
complement(1781)-g, adbSNP:11654383
Gene SymbolPMP22
Gene SynonymCMT1A; CMT1E; DSS; GAS-3; HMSNIA; HNPP; Sp110
Chromosome17
Locus Map17p12
All Transcripts
RefSeq Accession Definition Sequence Price Select
NM_000304 Homo sapiens peripheral myelin protein 22 (PMP22), transcript variant 1, mRNA. Full Length $530.12
ORF Sequence $159.00
NM_153321 Homo sapiens peripheral myelin protein 22 (PMP22), transcript variant 2, mRNA. Full Length $526.64
ORF Sequence $159.00
NM_153322 Homo sapiens peripheral myelin protein 22 (PMP22), transcript variant 3, mRNA. Full Length $484.01
ORF Sequence $159.00
Title Distal enhancers upstream of the Charcot-Marie-Tooth type 1A disease gene PMP22 .
Author Jones,E.A., Brewer,M.H., Srinivasan,R., Krueger,C., Sun,G., Charney,K.N., Keles,S., Antonellis,A. and Svaren,J.
Journal Hum. Mol. Genet. 21 (7), 1581-1591 (2012)
Title Mutation analysis of PMP22 in Slovak patients with Charcot-Marie-Tooth disease and hereditary neuropathy with liability to pressure palsies .
Author Resko,P., Radvansky,J., Odnogova,Z., Baldovic,M., Minarik,G., Polakova,H., Palffy,R. and Kadasi,L.
Journal Gen. Physiol. Biophys. 30 (4), 379-388 (2011)
Title Mutational analysis of PMP22, GJB1 and MPZ in Greek Charcot-Marie-Tooth type 1 neuropathy patients .
Author Karadima,G., Floroskufi,P., Koutsis,G., Vassilopoulos,D. and Panas,M.
Journal Clin. Genet. 80 (5), 497-499 (2011)
Title Four novel point mutations in the PMP22 gene with phenotypes of .
Author Brozkova,D., Mazanec,R., Rychly,Z., Haberlova,J., Bohm,J., Stanek,J., Plevova,P., Lisonova,J., Sabova,J., Sakmaryova,I. and Seeman,P.
Journal Muscle Nerve 44 (5), 819-822 (2011)
Title [PMP22 mutation of an infant-onset Charcot-Marie-Tooth disease family] .
Author Xing,J.W., Liu,Y.H., Shamsi,B.H., Liu,X.H., Tan,L. and Xu,M.
Journal Zhongguo Dang Dai Er Ke Za Zhi 13 (10), 799-803 (2011)
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 Isolation and mapping to 17p12-13 of the human homologous of the murine growth arrest specific Gas-3 gene .
Author Martinotti,A., Cariani,C.T., Melani,C., Sozzi,G., Spurr,N.K., Pierotti,M.A. and Colombo,M.P.
Journal Hum. Mol. Genet. 1 (5), 331-334 (1992)
Title The peripheral myelin gene PMP-22/GAS-3 is duplicated in Charcot-Marie-Tooth disease type 1A .
Author Valentijn,L.J., Bolhuis,P.A., Zorn,I., Hoogendijk,J.E., van den Bosch,N., Hensels,G.W., Stanton,V.P. Jr., Housman,D.E., Fischbeck,K.H., Ross,D.A. et al.
Journal Nat. Genet. 1 (3), 166-170 (1992)
Title The gene for the peripheral myelin protein PMP-22 is a candidate for Charcot-Marie-Tooth disease type 1A .
Author Patel,P.I., Roa,B.B., Welcher,A.A., Schoener-Scott,R., Trask,B.J., Pentao,L., Snipes,G.J., Garcia,C.A., Francke,U., Shooter,E.M., Lupski,J.R. and Suter,U.
Journal Nat. Genet. 1 (3), 159-165 (1992)
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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