MPV17
Chr 2mitochondrial inner membrane protein MPV17
Non-selective channel that modulates the membrane potential under normal conditions and oxidative stress, and is involved in mitochondrial homeostasis (PubMed:25861990). Involved in mitochondrial deoxynucleoside triphosphates (dNTP) pool homeostasis and mitochondrial DNA (mtDNA) maintenance (PubMed:26760297). May be involved in the regulation of reactive oxygen species metabolism and the control of oxidative phosphorylation (By similarity)
Primary Disease Associations & Inheritance
Clinical highlights
Some data sources returned errors (1)
omim: Error: OMIM fetch failed: 429
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
ClinVar
No ClinVar data available.
Protein Context — Lollipop Plot
MPV17 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
Deoxynucleosides Pyrimidines as Treatment for Mitochondrial Depletion Syndrome
RECRUITINGEpithelial Dysmetabolism and Renal Fibrosis in ANCA Vasculitis
RECRUITINGGenetic Causes of FSGS, Nephrotic Syndrome, or Kidney Failure
ACTIVE NOT RECRUITINGNational Registry of Rare Kidney Diseases
RECRUITINGGenetic Determinants of Kidney Disease in People of African Ancestry With HIV
ACTIVE NOT RECRUITINGA Study to Find Out if BI 764198 Helps Adults and Adolescents With a Kidney Condition Called Focal Segmental Glomerulosclerosis (FSGS)
RECRUITINGINSIGHT (Insight Into Nephrotic Syndrome)
RECRUITING"A Privacy-protecting Environment for Child Transplants Health Related and Genomic Data Integration in the European Reference Network"
NOT YET RECRUITINGExternal Resources
Links to major genomics databases and tools