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5 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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MPV17L2
MPV17 mitochondrial inner membrane protein like 2
Chromosome 19 · 19p13.11
NCBI Gene: 84769Ensembl: ENSG00000254858.11HGNC: HGNC:28177UniProt: Q567V2
12PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
mitochondrial large ribosomal subunit bindingmitochondrial ribosome assemblypositive regulation of mitochondrial translationmitochondrionmultiple sclerosislysosomal storage diseaseAlzheimer diseaseParkinson disease
✦AI Summary

MPV17L2 is an integral mitochondrial inner membrane protein essential for mitochondrial ribosome biogenesis and function. MPV17L2 is required for assembly and stability of the mitochondrial ribosome and acts as a positive regulator of mitochondrial protein synthesis 1. Mechanistically, MPV17L2 co-sediments with the large ribosomal subunit and facilitates union of mitochondrial ribosomal subunits to form the translationally competent monosome 1. Depletion of MPV17L2 markedly decreases both ribosomal subunits and impairs mitochondrial protein synthesis, while also inducing mitochondrial DNA aggregation 1. Therapeutically, reducing MPV17L2 expression via miR-34a-5p targeting decreases respiratory chain Complex I activity and ATP production, reducing mitochondrial respiration capacity and increasing oxidative stress in cancer cells 2. Genetic studies identify MPV17L2 as a disease-associated locus near MS-susceptibility SNPs 3 and as a prognostic gene in cigarette-toxicant-induced osteoporosis through mitochondrial regulation pathways 4. Additionally, MPV17L2 expression is downregulated following HDAC11 inhibitor treatment in malignant peripheral nerve sheath tumor cells, contributing to mitochondrial dysfunction 5. These findings establish MPV17L2 as a critical regulator of mitochondrial bioenergetics with potential therapeutic implications in cancer and neurodegenerative disease.

Sources cited
1
MPV17L2 is required for mitochondrial ribosome assembly, stability, and positive regulation of mitochondrial protein synthesis; co-sediments with large ribosomal subunit
PMID: 24948607
2
miR-34a-5p targets MPV17L2; reducing MPV17L2 decreases Complex I activity, ATP production, and mitochondrial respiration while increasing oxidative stress in cancer cells
PMID: 35579419
3
MPV17L2 is near MS-associated SNPs and involved in immune system regulation
PMID: 27169423
4
MPV17L2 identified as prognostic gene in cigarette-toxicant-induced osteoporosis through mitochondrial regulation
PMID: 40925315
5
MPV17L2 expression is downregulated following HDAC11 inhibition in MPNST cells, contributing to mitochondrial dysfunction
PMID: 38203448
Disease Associationsⓘ20
multiple sclerosisOpen Targets
0.29Weak
Alzheimer diseaseOpen Targets
0.25Weak
lysosomal storage diseaseOpen Targets
0.25Weak
neurodegenerative diseaseOpen Targets
0.25Weak
Parkinson diseaseOpen Targets
0.25Weak
obesityOpen Targets
0.14Weak
overnutritionOpen Targets
0.09Suggestive
Griscelli diseaseOpen Targets
0.07Suggestive
Griscelli disease type 3Open Targets
0.07Suggestive
Griscelli syndrome type 3Open Targets
0.07Suggestive
uncombable hair syndromeOpen Targets
0.06Suggestive
Griscelli disease type 1Open Targets
0.05Suggestive
Griscelli syndrome type 1Open Targets
0.05Suggestive
oculocutaneous albinism type 3Open Targets
0.05Suggestive
hypotrichosis 8Open Targets
0.04Suggestive
Microcephaly - albinism - digital anomaliesOpen Targets
0.04Suggestive
microcephaly-albinism-digital anomalies syndromeOpen Targets
0.04Suggestive
Clouston syndromeOpen Targets
0.04Suggestive
hydrocephalus, congenital communicating, 1Open Targets
0.04Suggestive
megalencephaly, autosomal dominantOpen Targets
0.04Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
MPV17Protein interaction92%MPV17LProtein interaction91%NGRNShared pathway67%RMND1Shared pathway50%TACO1Shared pathway50%MTERF3Shared pathway33%
Tissue Expression6 tissues
Liver
100%
Heart
83%
Lung
55%
Ovary
48%
Brain
37%
Bone Marrow
21%
Gene Interaction Network
Click a node to explore
MPV17L2MPV17MPV17LNGRNRMND1TACO1MTERF3
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q567V2
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.53LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.12 [0.83–1.53]
RankingsWhere MPV17L2 stands among ~20K protein-coding genes
  • #16,504of 20,598
    Most Researched12
  • #15,376of 17,882
    Most Constrained (LOEUF)1.53
Genes detectedMPV17L2
Sources retrieved5 papers
Response time—
📄 Sources
5
1
Analysis of the toxicity and mechanisms of osteoporosis caused by cigarette toxicants using network toxicology and molecular docking techniques.
PMID: 40925315
Sci Total Environ · 2025
1.00
2
MPV17L2 is required for ribosome assembly in mitochondria.
PMID: 24948607
Nucleic Acids Res · 2014
0.80
3
FT895 Impairs Mitochondrial Function in Malignant Peripheral Nerve Sheath Tumor Cells.
PMID: 38203448
Int J Mol Sci · 2023
0.60
4
Bioengineered miR-34a modulates mitochondrial inner membrane protein 17 like 2 (MPV17L2) expression toward the control of cancer cell mitochondrial functions.
PMID: 35579419
Bioengineered · 2022
0.40
5
A survey of endogenous retrovirus (ERV) sequences in the vicinity of multiple sclerosis (MS)-associated single nucleotide polymorphisms (SNPs).
PMID: 27169423
Mol Biol Rep · 2016
0.20