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Homo sapiens MpV17 mitochondrial inner membrane protein (MPV17), mRNA.


Clone ID Definition Vector Stock Status Price *Turnaround time Order
OHu18759 Homo sapiens MpV17 mitochondrial inner membrane protein (MPV17), mRNA. pcDNA3.1+-DYK In-stock $99.00 5-7
OHu18759C Homo sapiens MpV17 mitochondrial inner membrane protein (MPV17), mRNA. Customized vector In-stock $149.00 5-7

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Mutation services

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_002437.4, 98991774
Length 531 bp
Structure linear
Update Date 03-MAY-2014
Organism Homo sapiens (human)
Definition Homo sapiens MpV17 mitochondrial inner membrane protein (MPV17), mRNA.
Product protein Mpv17
Comment

Summary: This gene encodes a mitochondrial inner membrane protein that is implicated in the metabolism of reactive oxygen species. Mutations in this gene have been associated with the hepatocerebral form of mitochondrial DNA depletion syndrome (MDDS). [provided by RefSeq, Jul 2008].

RefSeq NP_002428.1
CDS 57..587
Misc Feature(1)12..14
Misc Feature(2)12..14
Misc Feature(3)108..170
Misc Feature(4)108..170
Misc Feature(5)213..275
Misc Feature(6)336..398
Misc Feature(7)381..581
Misc Feature(8)447..509
Exon (1)1..51
Gene:MPV17
Gene Synonym:MTDPS6; SYM1
Exon (2)52..126
Gene:MPV17
Gene Synonym:MTDPS6; SYM1
Exon (3)127..242
Gene:MPV17
Gene Synonym:MTDPS6; SYM1
Exon (4)243..335
Gene:MPV17
Gene Synonym:MTDPS6; SYM1
Exon (5)336..431
Gene:MPV17
Gene Synonym:MTDPS6; SYM1
Exon (6)432..464
Gene:MPV17
Gene Synonym:MTDPS6; SYM1
Exon (7)465..517
Gene:MPV17
Gene Synonym:MTDPS6; SYM1
Exon (8)518..1007
Gene:MPV17
Gene Synonym:MTDPS6; SYM1
Translation MALWRAYQRALAAHPWKVQVLTAGSLMGLGDIISQQLVERRGLQEHQRGRTLTMVSLGCG FVGPVVGGWYKVLDRFIPGTTKVDALKKMLLDQGGFAPCFLGCFLPLVGALNGLSAQDNW AKLQRDYPDALITNYYLWPAVQLANFYLVPLHYRLAVVQCVAVIWNSYLSWKAHRL
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Position Chain Variation Link
complement(54)-dbSNP:
complement(54)-t, cdbSNP:200303357
complement(76)-t, cdbSNP:367838807
78..79+, cdbSNP:267607266
complement(83)-t, gdbSNP:35244252
complement(88)-g, adbSNP:200445233
complement(117)-g, cdbSNP:200504529
126+g, tdbSNP:121909725
complement(158)-dbSNP:
complement(158)-t, adbSNP:368254758
172..197+, agaggcggggtctgcaggaacaccagdbSNP:397507438
complement(178)-t, cdbSNP:140992482
204+c, tdbSNP:121909723
205+a, gdbSNP:121909721
complement(212)-t, cdbSNP:142493907
complement(236)-t, gdbSNP:377148388
complement(247)-dbSNP:
complement(247)-g, cdbSNP:375401970
complement(250)-g, adbSNP:140888121
262+a, gdbSNP:267607261
complement(279)-g, adbSNP:370061168
290..298+, tggcaccacdbSNP:267607262
complement(291)-g, cdbSNP:149893578
295+c, tdbSNP:35759430
complement(295)-g, adbSNP:386584042
complement(305)-t, cdbSNP:199952690
318+a, gdbSNP:267607256
319..321+, agadbSNP:267607263
327..329+, ttgdbSNP:267607264
complement(334)-t, adbSNP:200938111
336+dbSNP:
336+c, gdbSNP:267607257
complement(346)-g, adbSNP:373571379
349+c, tdbSNP:267607258
complement(357)-g, cdbSNP:369706595
complement(387)-g, adbSNP:55689147
complement(413)-g, adbSNP:137975836
415+a, gdbSNP:121909724
complement(429)-g, adbSNP:112170670
complement(454)-dbSNP:
complement(454)-g, cdbSNP:149309794
complement(460)-t, cdbSNP:199690638
complement(463)-t, cdbSNP:374692755
507..508+dbSNP:
507..508+, cdbSNP:267607267
541+dbSNP:
541+a, cdbSNP:267607259
554+a, cdbSNP:121909722
complement(563)-g, cdbSNP:369282321
565+c, tdbSNP:267607260
complement(579)-g, adbSNP:374686068
complement(599)-c, adbSNP:201202659
complement(605)-t, cdbSNP:201679811
complement(618)-t, cdbSNP:376716759
complement(621)-t, cdbSNP:147885371
complement(634)-t, gdbSNP:182018397
complement(641)-g, adbSNP:189632972
complement(642)-t, cdbSNP:371392423
complement(667)-g, adbSNP:200529035
complement(682)-t, cdbSNP:183584895
complement(695)-t, gdbSNP:181227313
complement(702)-t, adbSNP:188354035
742+c, tdbSNP:1049751
complement(742)-g, adbSNP:386513733
783+c, tdbSNP:1049772
792+a, cdbSNP:1049790
882+a, cdbSNP:1049795
885+c, tdbSNP:1049796
925+c, tdbSNP:1049799
complement(934)-g, adbSNP:144697795
945+a, gdbSNP:1049801
Gene SymbolMPV17
Gene SynonymMTDPS6; SYM1
Chromosome2
Locus Map2p23.3
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_002437 Homo sapiens MpV17 mitochondrial inner membrane protein (MPV17), mRNA. In-stock $99.00 5-7
NM_002437 Homo sapiens MpV17 mitochondrial inner membrane protein (MPV17), mRNA. In-stock $99.00 5-7
NM_002437 Homo sapiens MpV17 mitochondrial inner membrane protein (MPV17), mRNA. In-stock $99.00 5-7
NM_002437 Homo sapiens MpV17 mitochondrial inner membrane protein (MPV17), mRNA. In-stock $99.00 5-7
Title Identification of Rhit as a novel transcriptional repressor of human Mpv17-like protein with a mitigating effect on mitochondrial dysfunction, and its transcriptional regulation by FOXD3 and GABP .
Author Iida R, Ueki M and Yasuda T.
Journal Free Radic. Biol. Med. 52 (8), 1413-1422 (2012)
Title Identification of rare DNA variants in mitochondrial disorders with improved array-based sequencing .
Author Wang W, Shen P, Thiyagarajan S, Lin S, Palm C, Horvath R, Klopstock T, Cutler D, Pique L, Schrijver I, Davis RW, Mindrinos M, Speed TP and Scharfe C.
Journal Nucleic Acids Res. 39 (1), 44-58 (2011)
Title Functional splicing assay supporting that c.70 + 5G > A mutation in the MPV17 gene is disease causing .
Author Navarro-Sastre A, Garcia-Silva MT, Martin-Hernandez E, Lluch M, Briones P and Ribes A.
Journal J. Inherit. Metab. Dis. 33 (SUPPL 3), S293-S296 (2010)
Title MPV17-associated hepatocerebral mitochondrial DNA depletion syndrome: new patients and novel mutations .
Author El-Hattab AW, Li FY, Schmitt E, Zhang S, Craigen WJ and Wong LJ.
Journal Mol. Genet. Metab. 99 (3), 300-308 (2010)
Title Genetic variants in nuclear-encoded mitochondrial genes influence .
Author Hendrickson SL, Lautenberger JA, Chinn LW, Malasky M, Sezgin E, Kingsley LA, Goedert JJ, Kirk GD, Gomperts ED, Buchbinder SP, Troyer JL and O'Brien SJ.
Journal PLoS ONE 5 (9), E12862 (2010)
Title Functional rescue of the glomerulosclerosis phenotype in Mpv17 mice by transgenesis with the human Mpv17 homologue .
Author Schenkel J, Zwacka RM, Rutenberg C, Reuter A, Waldherr R and Weiher H.
Journal Kidney Int. 48 (1), 80-84 (1995)
Title The glomerulosclerosis gene Mpv17 encodes a peroxisomal protein producing reactive oxygen species .
Author Zwacka RM, Reuter A, Pfaff E, Moll J, Gorgas K, Karasawa M and Weiher H.
Journal EMBO J. 13 (21), 5129-5134 (1994)
Title The human homolog of the glomerulosclerosis gene Mpv17: structure and genomic organization .
Author Karasawa M, Zwacka RM, Reuter A, Fink T, Hsieh CL, Lichter P, Francke U and Weiher H.
Journal Hum. Mol. Genet. 2 (11), 1829-1834 (1993)
Title MPV17-Related Hepatocerebral Mitochondrial DNA Depletion Syndrome .
Author El-Hattab,A.W., Scaglia,F., Craigen,W.J. and Wong,L.J.C.
Journal (in) Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH and Stephens K (Eds.); GENEREVIEWS(R); (1993)
Title Glomerular sclerosis in transgenic mice: the Mpv-17 gene and its human homologue .
Author Weiher H.
Journal Adv. Nephrol. Necker Hosp. 22, 37-42 (1993)

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