MPV17
Chr 2ARmitochondrial inner membrane protein MPV17
Also known as: CMT2EE, MTDPS6, SYM1
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]
Primary Disease Associations & Inheritance
Clinical highlights
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
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