Description: Homo sapiens MpV17 mitochondrial inner membrane protein (MPV17), nuclear gene encoding mitochondrial protein, mRNA. RefSeq Summary (NM_002437): 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]. Transcript (Including UTRs) Position: hg19 chr2:27,532,360-27,545,969 Size: 13,610 Total Exon Count: 8 Strand: - Coding Region Position: hg19 chr2:27,532,780-27,545,384 Size: 12,605 Coding Exon Count: 7
ID:MPV17_HUMAN DESCRIPTION: RecName: Full=Protein Mpv17; FUNCTION: Involved in mitochondria homeostasis. May be involved in the metabolism of reactive oxygen species and control of oxidative phosphorylation and mitochondrial DNA (mtDNA) maintenance. SUBCELLULAR LOCATION: Mitochondrion inner membrane; Multi-pass membrane protein. TISSUE SPECIFICITY: Ubiquitous. Expressed in pancreas, kidney, muscle, liver, lung, placenta, brain and heart. DISEASE: Defects in MPV17 are the cause of mitochondrial DNA depletion syndrome type 6 (MTDPS6) [MIM:256810]. 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. SIMILARITY: Belongs to the peroxisomal membrane protein PXMP2/4 family. WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/MPV17";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P39210
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Biological Process: GO:0000002 mitochondrial genome maintenance GO:0006625 protein targeting to peroxisome GO:0032836 glomerular basement membrane development GO:0034614 cellular response to reactive oxygen species GO:0042592 homeostatic process GO:0048839 inner ear development GO:2000377 regulation of reactive oxygen species metabolic process
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Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
