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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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MPV17L
MPV17 mitochondrial inner membrane protein like
Chromosome 16 · 16p13.11
NCBI Gene: 255027Ensembl: ENSG00000156968.9HGNC: HGNC:26827UniProt: Q2QL34
12PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
negative regulation of hydrogen peroxide biosynthetic processnegative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathwaycytoplasmmitochondrionMODYtype 1 diabetes mellitusmaturity-onset diabetes of the young type 4diabetes mellitus, transient neonatal, 2
✦AI Summary

MPV17L is a mitochondrial inner membrane protein that functions as an atypical phosphodiesterase (PDE) regulating cyclic nucleotide metabolism 1. Despite lacking conserved PDE catalytic motifs, MPV17L exhibits genuine PDE activity and modulates cAMP/protein kinase A signaling pathways 2. The protein protects mitochondrial integrity through multiple mechanisms: it regulates reactive oxygen species (ROS) metabolism via antioxidant enzyme expression 3, directly activates the serine protease HtrA2 through PDZ domain interaction to inhibit mitochondrial superoxide generation and prevent apoptosis 4, and suppresses hydrogen peroxide biosynthesis while blocking mitochondrial outer membrane permeabilization 5. MPV17L exists in tissue-specific isoforms with differential ROS regulatory functions 6. Disease relevance includes diabetic kidney disease, where MPV17L is a novel downregulated hub gene 7, and chr16 obstructive pulmonary disease with asthma overlap, where promoter hypermethylation-mediated MPV17L downregulation correlates with increased ROS generation and apoptosis 8. MPV17L also serves as a prognostic biomarker in lung adenocarcinoma 9. Loss of MPV17L expression during oxidative renal injury 4 and miRNA-21-mediated repression in kidney fibrosis 10 highlight its clinical significance in renal pathology. Conversely, MPV17L knockout mice display improved glucose tolerance via Wnt/TGF-β pathway activation 2, suggesting potential therapeutic applications in metabolic diseases.

Sources cited
1
MPV17L is a mitochondrial inner membrane protein that functions as an atypical phosphodiesterase (PDE) regulating cyclic nucleotide metabolism .
PMID: 40180270
2
Despite lacking conserved PDE catalytic motifs, MPV17L exhibits genuine PDE activity and modulates cAMP/protein kinase A signaling pathways .
PMID: 34883249
3
The protein protects mitochondrial integrity through multiple mechanisms: it regulates reactive oxygen species (ROS) metabolism via antioxidant enzyme expression , directly activates the serine protease HtrA2 through PDZ domain interaction to inhibit mitochondrial superoxide generation and prevent apoptosis , and suppresses hydrogen peroxide biosynthesis while blocking mitochondrial outer membrane permeabilization .
PMID: 16631601
4
The protein protects mitochondrial integrity through multiple mechanisms: it regulates reactive oxygen species (ROS) metabolism via antioxidant enzyme expression , directly activates the serine protease HtrA2 through PDZ domain interaction to inhibit mitochondrial superoxide generation and prevent apoptosis , and suppresses hydrogen peroxide biosynthesis while blocking mitochondrial outer membrane permeabilization .
PMID: 18772386
5
The protein protects mitochondrial integrity through multiple mechanisms: it regulates reactive oxygen species (ROS) metabolism via antioxidant enzyme expression , directly activates the serine protease HtrA2 through PDZ domain interaction to inhibit mitochondrial superoxide generation and prevent apoptosis , and suppresses hydrogen peroxide biosynthesis while blocking mitochondrial outer membrane permeabilization .
PMID: 22306510
6
MPV17L exists in tissue-specific isoforms with differential ROS regulatory functions .
PMID: 19935920
7
Disease relevance includes diabetic kidney disease, where MPV17L is a novel downregulated hub gene , and chr16 obstructive pulmonary disease with asthma overlap, where promoter hypermethylation-mediated MPV17L downregulation correlates with increased ROS generation and apoptosis .
PMID: 35432190
8
Disease relevance includes diabetic kidney disease, where MPV17L is a novel downregulated hub gene , and chr16 obstructive pulmonary disease with asthma overlap, where promoter hypermethylation-mediated MPV17L downregulation correlates with increased ROS generation and apoptosis .
PMID: 33658578
9
MPV17L also serves as a prognostic biomarker in lung adenocarcinoma .
PMID: 31558162
10
Loss of MPV17L expression during oxidative renal injury and miRNA-21-mediated repression in kidney fibrosis highlight its clinical significance in renal pathology.
PMID: 22344686
Disease Associationsⓘ20
MODYOpen Targets
0.08Suggestive
type 1 diabetes mellitusOpen Targets
0.06Suggestive
maturity-onset diabetes of the young type 4Open Targets
0.05Suggestive
diabetes mellitus, transient neonatal, 2Open Targets
0.05Suggestive
chronic pancreatitisOpen Targets
0.05Suggestive
maturity-onset diabetes of the young type 2Open Targets
0.05Suggestive
maturity-onset diabetes of the young type 6Open Targets
0.05Suggestive
maturity-onset diabetes of the young type 3Open Targets
0.05Suggestive
Testicular Germ Cell TumorOpen Targets
0.04Suggestive
maturity-onset diabetes of the young type 10Open Targets
0.04Suggestive
hyperinsulinemic hypoglycemia, familial, 2Open Targets
0.04Suggestive
renal cysts and diabetes syndromeOpen Targets
0.04Suggestive
diabetes mellitusOpen Targets
0.04Suggestive
islet cell adenomatosisOpen Targets
0.04Suggestive
poisoningOpen Targets
0.04Suggestive
diabetic ketoacidosisOpen Targets
0.04Suggestive
smoking initiationOpen Targets
0.04Suggestive
pancreatic agenesis 2Open Targets
0.04Suggestive
Partial pancreatic agenesisOpen Targets
0.04Suggestive
obesityOpen Targets
0.04Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
MPV17Protein interaction91%MPV17L2Protein interaction91%SLC35F6Shared pathway50%TMEM14AShared pathway50%ACAA2Shared pathway25%SLC25A5Shared pathway9%
Tissue Expression6 tissues
Liver
100%
Brain
69%
Ovary
43%
Heart
37%
Lung
14%
Bone Marrow
6%
Gene Interaction Network
Click a node to explore
MPV17LMPV17MPV17L2SLC35F6TMEM14AACAA2SLC25A5
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q2QL34
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.71LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.19 [0.83–1.71]
RankingsWhere MPV17L stands among ~20K protein-coding genes
  • #16,503of 20,598
    Most Researched12
  • #16,168of 17,882
    Most Constrained (LOEUF)1.71
Genes detectedMPV17L
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Overview of M-LP/MPV17L, a novel atypical PDE and possible target for drug development.
PMID: 40180270
Eur J Pharmacol · 2025
1.00
2
Deficiency of M-LP/Mpv17L leads to development of β-cell hyperplasia and improved glucose tolerance via activation of the Wnt and TGF-β pathways.
PMID: 34883249
Biochim Biophys Acta Mol Basis Dis · 2022
0.90
3
Methylation and transcriptome analysis reveal lung adenocarcinoma-specific diagnostic biomarkers.
PMID: 31558162
J Transl Med · 2019
0.80
4
Mpv17l protects against mitochondrial oxidative stress and apoptosis by activation of Omi/HtrA2 protease.
PMID: 18772386
Proc Natl Acad Sci U S A · 2008
0.70
5
Identification of Novel Key Molecular Signatures in the Pathogenesis of Experimental Diabetic Kidney Disease.
PMID: 35432190
Front Endocrinol (Lausanne) · 2022
0.60