MPV17 Gene Summary [Human]
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]
Details
| Type | Processed Transcript |
| Official Symbol | MPV17 |
| Official Name | mitochondrial inner membrane protein MPV17 [Source:HGNC Symbol;Acc:HGNC:7224] |
| Ensembl ID | ENSG00000115204 |
| Bio databases IDs | |
| Aliases | mitochondrial inner membrane protein MPV17, glomerulosclerosis |
| Synonyms | CMT2EE, mitochondrial inner membrane protein MPV17, Mpv17l, MpV17 mitochondrial inner membrane protein, MTDPS6, SYM1, Tg.Mpv17 |
| Species | Human, Homo sapiens |
| 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 human 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 human 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