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 | |
| 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 |
| Orthologies |
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.
regulates
- reactive oxygen species
- polyanion
- mitochondrial DNA
- oxygen radical
regulated by
- hydrogen peroxide
- GnRH analog
- EIF4E
disease
- Navajo neurohepatopathy
- axonal Charcot-Marie-Tooth disease type 2EE
- mitochondrial DNA depletion syndrome
- focal segmental glomerulosclerosis
- mitochondrial DNA depletion syndrome 15
- mitochondrial disorder
phenotypes
- decreased total body fat amount
- increased heart weight
- increased lean body mass
- abnormal auditory brainstem response
- abnormal blood homeostasis
- abnormal coat/hair pigmentation
- abnormal cochlea morphology
- abnormal glomerular capillary morphology
- abnormal hepatocyte morphology
- abnormal hypodermis muscle layer morphology
- abnormal liver lobule morphology
- abnormal liver sinusoid morphology
- abnormal mitochondrial crista morphology
- abnormal portal triad morphology
- abnormal renal glomerulus morphology
- abnormal renal tubule morphology
- abnormal renal/urinary system physiology
- abnormal scala media morphology
- abnormal sebaceous gland morphology
- abnormal skin morphology
- albuminuria
- anemia
- cachexia
- cochlear ganglion degeneration
- cochlear ganglion hypoplasia
- cochlear outer hair cell degeneration
- cortical renal glomerulopathies
- decreased body weight
- decreased circulating serum albumin level
- decreased erythrocyte cell number
- decreased hair follicle number
- decreased hemoglobin content
- decreased mitochondrial DNA content
- decreased subcutaneous adipose tissue amount
- decreased urine osmolality
- dilated mitochondria
- dilated renal tubules
- expanded mesangial matrix
- fused podocyte foot processes
- glomerulosclerosis
- hypertension
- hypoactivity
- increased blood urea nitrogen level
- increased circulating alanine transaminase level
- increased circulating aspartate transaminase level
- increased circulating cholesterol level
- increased circulating creatine kinase level
- increased circulating creatinine level
- increased circulating lactate level
- increased heart rate
- increased kidney weight
- increased or absent threshold for auditory brainstem response
- increased urine protein level
- increased urine sodium level
- kidney degeneration
- kidney failure
- organ of Corti degeneration
- podocyte foot process effacement
- polyuria
- premature death
- renal glomerulus hypertrophy
- renal interstitial fibrosis
- sensorineural hearing loss
- small sebaceous gland
- spiral ligament degeneration
- stria vascularis degeneration
- thin epidermis
- thin skin
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