Mpv17 Gene Summary [Mouse]

Predicted to enable channel activity. Involved in several processes, including cellular response to reactive oxygen species; glomerular basement membrane development; and regulation of mitochondrial DNA metabolic process. Acts upstream of or within reactive oxygen species metabolic process and sensory perception of sound. Located in mitochondrion and peroxisome. Used to study autosomal recessive Alport syndrome; mitochondrial DNA depletion syndrome 3; and nephrotic syndrome. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease type 2EE and mitochondrial DNA depletion syndrome 6. Orthologous to human MPV17 (mitochondrial inner membrane protein MPV17). [provided by Alliance of Genome Resources, Jul 2025]

Details

Type
Protein Coding
Official Symbol
Mpv17
Official Name
MpV17 mitochondrial inner membrane protein [Source:MGI Symbol;Acc:MGI:97138]
Ensembl ID
ENSMUSG00000107283
Bio databases IDs NCBI: 17527 Ensembl: ENSMUSG00000107283
Aliases MpV17 mitochondrial inner membrane protein
Synonyms CMT2EE, mitochondrial inner membrane protein MPV17, Mpv17l, MpV17 mitochondrial inner membrane protein, MTDPS6, SYM1, Tg.Mpv17
Species
Mouse, Mus musculus
OrthologiesHumanRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in mouse Mpv17 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • Mpv17 / PMP22 family
  • channel/pore class transporter
  • ion channel

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • Navajo neurohepatopathy
  • axonal Charcot-Marie-Tooth disease type 2EE
  • mitochondrial DNA depletion syndrome
  • focal segmental glomerulosclerosis
  • mitochondrial DNA depletion syndrome 15
  • mitochondrial disorder
regulated by
  • hydrogen peroxide
  • GnRH analog
  • EIF4E
regulates
  • reactive oxygen species
  • polyanion
  • mitochondrial DNA
  • oxygen radical
role in cell
  • response by
  • development
  • osteoclastogenesis

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Cytoplasm
  • Mitochondria
  • cytosol
  • mitochondrial inner membrane
  • peroxisome membrane
  • peroxisomes

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the mouse Mpv17 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • glomerular basement membrane development
  • inner ear development
  • transmembrane transport
  • homeostatic process
  • regulation of reactive oxygen species metabolic process
  • cellular response to reactive oxygen species
  • mitochondrial genome maintenance

Cellular Component

Where in the cell the gene product is active
  • peroxisomal membrane
  • peroxisome
  • cytoplasm
  • mitochondrion
  • cytosol
  • mitochondrial inner membrane

Molecular Function

What the gene product does at the molecular level
  • channel activity

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.