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


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_002437 Homo sapiens MpV17 mitochondrial inner membrane protein (MPV17), nuclear gene encoding mitochondrial protein, mRNA. GenEZ ORF Cloning In-stock $308.00 $259.00 10

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RefSeq Version NM_002437.4, 98991774
Length 1051 bp
Structure linear
Update Date 17-APR-2013
Organism Homo sapiens (human)
Definition Homo sapiens MpV17 mitochondrial inner membrane protein (MPV17), nuclear gene encoding mitochondrial protein, 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(78..79)-, cdbSNP:267607266
complement(83)-t, gdbSNP:35244252
complement(88)-g, adbSNP:200445233
complement(117)-g, cdbSNP:200504529
complement(126)-t, gdbSNP:121909725
complement(178)-dbSNP:
complement(178)-t, cdbSNP:140992482
complement(204)-t, cdbSNP:121909723
complement(205)-g, adbSNP:121909721
complement(212)-t, cdbSNP:142493907
complement(250)-dbSNP:
complement(250)-g, adbSNP:140888121
complement(262)-g, adbSNP:267607261
complement(290..298)-, tggcaccacdbSNP:267607262
complement(291)-g, cdbSNP:149893578
complement(295)-t, cdbSNP:35759430
complement(305)-t, cdbSNP:199952690
complement(318)-g, adbSNP:267607256
complement(319..321)-, agadbSNP:267607263
complement(323)-t, cdbSNP:146020154
complement(327..329)-, ttgdbSNP:267607264
complement(334)-t, adbSNP:200938111
complement(336)-dbSNP:
complement(336)-g, cdbSNP:267607257
complement(349)-t, cdbSNP:267607258
complement(387)-g, adbSNP:55689147
complement(413)-g, adbSNP:137975836
complement(415)-g, adbSNP:121909724
complement(429)-g, adbSNP:112170670
complement(454)-dbSNP:
complement(454)-g, cdbSNP:149309794
complement(460)-t, cdbSNP:199690638
complement(507..508)-dbSNP:
complement(507..508)-, cdbSNP:267607267
complement(541)-dbSNP:
complement(541)-c, adbSNP:267607259
complement(554)-c, adbSNP:121909722
complement(565)-t, cdbSNP:267607260
complement(599)-c, adbSNP:201202659
complement(605)-t, cdbSNP:201679811
complement(621)-t, cdbSNP:147885371
complement(634)-t, gdbSNP:182018397
complement(641)-g, adbSNP:189632972
complement(667)-g, adbSNP:200529035
complement(682)-t, cdbSNP:183584895
complement(695)-t, gdbSNP:181227313
complement(702)-t, adbSNP:188354035
complement(742)-t, cdbSNP:1049751
complement(783)-t, cdbSNP:1049772
complement(792)-c, adbSNP:1049790
complement(882)-c, adbSNP:1049795
complement(885)-t, cdbSNP:1049796
complement(925)-t, cdbSNP:1049799
complement(934)-g, adbSNP:144697795
complement(945)-g, adbSNP: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), nuclear gene encoding mitochondrial protein, mRNA. In-stock $308.00 $259.00 10
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,R.W., Mindrinos,M., Speed,T.P. and Scharfe,C.
Journal Nucleic Acids Res. 39 (1), 44-58 (2011)
Title MPV17-associated hepatocerebral mitochondrial DNA depletion syndrome: new patients and novel mutations .
Author El-Hattab,A.W., Li,F.Y., Schmitt,E., Zhang,S., Craigen,W.J. and Wong,L.J.
Journal Mol. Genet. Metab. 99 (3), 300-308 (2010)
Title Genetic variants in nuclear-encoded mitochondrial genes influence .
Author Hendrickson,S.L., Lautenberger,J.A., Chinn,L.W., Malasky,M., Sezgin,E., Kingsley,L.A., Goedert,J.J., Kirk,G.D., Gomperts,E.D., Buchbinder,S.P., Troyer,J.L. and O'Brien,S.J.
Journal PLoS ONE 5 (9), E12862 (2010)
Title Fluctuating liver functions in siblings with MPV17 mutations and possible improvement associated with dietary and pharmaceutical treatments targeting respiratory chain complex II .
Author Kaji,S., Murayama,K., Nagata,I., Nagasaka,H., Takayanagi,M., Ohtake,A., Iwasa,H., Nishiyama,M., Okazaki,Y., Harashima,H., Eitoku,T., Yamamoto,M., Matsushita,H., Kitamoto,K., Sakata,S., Katayama,T., Sugimoto,S., Fujimoto,Y., Murakami,J., Kanzaki,S. and Shiraki,K.
Journal Mol. Genet. Metab. 97 (4), 292-296 (2009)
Title M-LP, Mpv17-like protein, has a peroxisomal membrane targeting signal comprising a transmembrane domain and a positively charged loop and up-regulates expression of the manganese superoxide dismutase gene .
Author Iida,R., Yasuda,T., Tsubota,E., Takatsuka,H., Masuyama,M., Matsuki,T. and Kishi,K.
Journal J. Biol. Chem. 278 (8), 6301-6306 (2003)
Title Functional rescue of the glomerulosclerosis phenotype in Mpv17 mice by transgenesis with the human Mpv17 homologue .
Author Schenkel,J., Zwacka,R.M., 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,R.M., 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,R.M., Reuter,A., Fink,T., Hsieh,C.L., Lichter,P., Francke,U. and Weiher,H.
Journal Hum. Mol. Genet. 2 (11), 1829-1834 (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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