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MPV17 MpV17 mitochondrial inner membrane protein [Homo sapiens (human)]


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_002437 Homo sapiens MpV17 mitochondrial inner membrane protein (MPV17), mRNA. GenEZ ORF Cloning In-stock $308.00 $259.00 10
XM_005264326 PREDICTED: Homo sapiens MpV17 mitochondrial inner membrane protein (MPV17), transcript variant X1, mRNA. GenEZ ORF Cloning On-demand $399.00 14
XM_005264327 PREDICTED: Homo sapiens MpV17 mitochondrial inner membrane protein (MPV17), transcript variant X2, mRNA. GenEZ ORF Cloning On-demand $299.00 14
XM_006712021 PREDICTED: Homo sapiens MpV17 mitochondrial inner membrane protein (MPV17), transcript variant X3, mRNA. GenEZ ORF Cloning On-demand $399.00 14

*Business Day

Related Services

Gene Symbol MPV17
Entrez Gene ID 4358
Full Name MpV17 mitochondrial inner membrane protein
Synonyms MTDPS6, SYM1
General protein information
Preferred Names
protein Mpv17
Names
protein Mpv17
Mpv17, human homolog of glomerulosclerosis and nephrotic syndrome
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

2

2p23.3

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].
Disorder

MIM: 137960

Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), 256810

mRNA Protein Product Sequence Price Select
NM_002437, 98991774 NP_002428, 4505241 protein Mpv17 ORF Sequence $159.00
XM_005264326, 530367610 XP_005264383, 530367611 protein Mpv17 isoform X1 ORF Sequence $250.00
XM_005264327, 530367612 XP_005264384, 530367613 protein Mpv17 isoform X2 ORF Sequence $150.00
XM_006712021, 578802914 XP_006712084, 578802915 protein Mpv17 isoform X3 ORF Sequence $250.00
KEGG
hsa04146Peroxisome
Homo sapiens (human)MPV17NP_002428.1
Pan troglodytes (chimpanzee)MPV17XP_003308973.2
Macaca mulatta (Rhesus monkey)MPV17XP_001089329.2
Canis lupus familiaris (dog)MPV17XP_853776.2
Bos taurus (cattle)MPV17NP_001039394.1
Mus musculus (house mouse)Mpv17NP_032648.1
Rattus norvegicus (Norway rat)Mpv17lNP_001091710.1
Gallus gallus (chicken)MPV17XP_003641100.1
Danio rerio (zebrafish)mpv17NP_957459.2
Caenorhabditis elegansT18D3.9NP_001024916.1
Arabidopsis thaliana (thale cress)AT3G24570NP_189100.1
Process
IDNameEvidence
GO:0000002mitochondrial genome maintenanceIMP
GO:0032836glomerular basement membrane developmentISS
GO:0034614cellular response to reactive oxygen speciesISS
GO:0042592homeostatic processIMP
GO:0048839inner ear developmentISS
GO:0072593reactive oxygen species metabolic processIEA
GO:2000377regulation of reactive oxygen species metabolic processISS
Component
IDNameEvidence
GO:0005739mitochondrionIDA
GO:0005743mitochondrial inner membraneIDA
GO:0005777peroxisomeIDA
GO:0005777peroxisomeNAS
GO:0016021integral component of membraneIEA
Function
IDNameEvidence
GO:0003674molecular_functionND
GeneCards MPV17
UniProt P39210
Vega OTTHUMG00000097074
MIM 137960
Ensembl ENSG00000115204
HGNC 7224
HPRD 08847

GeneRIFs: Gene References Into Functions What's a GeneRIF?

What is the normal function of the MPV17 gene?

The MPV17 gene provides instructions for making a protein whose function is largely unknown. The MPV17 protein is located in the inner membrane of cell structures called mitochondria. Mitochondria are involved in a wide variety of cellular activities, including energy production, chemical signaling, and regulation of cell growth and division. Mitochondria contain their own DNA, known as mitochondrial DNA (mtDNA), which is essential for the normal function of these structures. It is likely that the MPV17 protein is involved in the maintenance of mtDNA. Having an adequate amount of mtDNA is essential for normal energy production within cells.

Interactant

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