MPV17 recombinant protein

Recombinant Human Protein Mpv17

Cat. Num. AAA968013

• Gene Names: MPV17; SYM1; MTDPS6
• Purity: Greater or equal to 85% purity as determined by SDS-PAGE.
• Synonyms: Mpv17; Recombinant Human Protein Mpv17; MPV17 recombinant protein

• Host: E Coli or Yeast or Baculovirus or Mammalian Cell
• Purity/Purification: Greater or equal to 85% purity as determined by SDS-PAGE.
• Form/Format: Lyophilized or liquid (Format to be determined during the manufacturing process)
• Sequence Positions: 1-176aa; Full Length
• Sequence: MALWRAYQRALAAHPWKVQVLTAGSLMGLGDIISQQLVERRGLQEHQRGRTLTMVSLGCGFVGPVVGGWYKVLDRFIPGTTKVDALKKMLLDQGGFAPCFLGCFLPLVGALNGLSAQDNWAKLQRDYPDALITNYYLWPAVQLANFYLVPLHYRLAVVQCVAVIWNSYLSWKAHRL
• Sequence Length: 176

• Preparation and Storage: Store at -20 degree C, for extended storage, conserve at -20 degree C or -80 degree C.

SDS-PAGE

Related Product Information for MPV17 recombinant protein

Involved in mitochondria homeostasis. May be involved in the metabolism of reactive oxygen species and control of oxidative phosphorylation and mitochondrial DNA (mtDNA) maintenance.

Product Categories/Family for MPV17 recombinant protein

Metabolism

References

The human homolog of the glomerulosclerosis gene Mpv17 structure and genomic organization.Karasawa M., Zwacka R.M., Reuter A., Fink T., Hsieh C.L., Lichter P., Francke U., Weiher H.Hum. Mol. Genet. 2:1829-1834(1993) Glomerular sclerosis in transgenic mice the Mpv-17 gene and its human homologue.Weiher H.Adv. Nephrol. Necker Hosp. 22:37-42(1993) Identification of rare DNA variants in mitochondrial disorders with improved array-based sequencing.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., Scharfe C.Nucleic Acids Res. 39:44-58(2011) Generation and annotation of the DNA sequences of human chromosomes 2 and 4.Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H., Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.Nature 434:724-731(2005)

NCBI and Uniprot Product Information

• NCBI GI #: 4505241
• NCBI GeneID: 4358
• NCBI Accession #: NP_002428.1
• NCBI GenBank Nucleotide #: NM_002437.4
• UniProt Accession #: P39210; Q53SY2; Q96B08; D6W555; AAB25210
• Molecular Weight: 35.7 kDa
• NCBI Official Full Name: protein Mpv17
• NCBI Official Synonym Full Names: MpV17 mitochondrial inner membrane protein
• NCBI Official Symbol: MPV17
• NCBI Official Synonym Symbols: SYM1; MTDPS6
• NCBI Protein Information: protein Mpv17
• UniProt Protein Name: Protein Mpv17
• Protein Family: Mpv17-like protein
• UniProt Gene Name: MPV17
• UniProt Entry Name: MPV17_HUMAN

NCBI Description

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]

Uniprot Description

MPV17: Involved in mitochondria homeostasis. May be involved in the metabolism of reactive oxygen species and control of oxidative phosphorylation and mitochondrial DNA (mtDNA) maintenance. Defects in MPV17 are the cause of mitochondrial DNA depletion syndrome type 6 (MTDPS6). A disease characterized by infantile onset of progressive liver failure, often leading to death in the first year of life, peripheral neuropathy, corneal scarring, acral ulceration and osteomyelitis leading to autoamputation, cerebral leukoencephalopathy, failure to thrive, and recurrent metabolic acidosis with intercurrent infections. Belongs to the peroxisomal membrane protein PXMP2/4 family.

Protein type: Mitochondrial; Membrane protein, multi-pass; Membrane protein, integral

Chromosomal Location of Human Ortholog: 2p23.3

Cellular Component: integral to membrane; mitochondrial inner membrane; mitochondrion; peroxisome

Biological Process: glomerular basement membrane development; homeostatic process; inner ear development; mitochondrial genome maintenance

Disease: Mitochondrial Dna Depletion Syndrome 6 (hepatocerebral Type)