MPV17
Chr 2ARmitochondrial inner membrane protein MPV17
Also known as: CMT2EE, MTDPS6, SYM1
This protein localizes to the mitochondrial inner membrane and functions in reactive oxygen species metabolism. Mutations cause mitochondrial DNA depletion syndrome 6 (hepatocerebral type) and Charcot-Marie-Tooth disease type 2EE through an autosomal recessive inheritance pattern. The pathogenic mechanism involves gain-of-function effects that disrupt normal mitochondrial function.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
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.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
Predictive Determinants of Nephrotic Syndrome Remission in Patients With At-risk Polymorphism of APOL1
NOT YET RECRUITINGDeoxynucleosides Pyrimidines as Treatment for Mitochondrial Depletion Syndrome
RECRUITINGGenetic Causes of FSGS, Nephrotic Syndrome, or Kidney Failure
ACTIVE NOT RECRUITINGA Study to Find Out if BI 764198 Helps Adults and Adolescents With a Kidney Condition Called Focal Segmental Glomerulosclerosis (FSGS)
RECRUITING"A Privacy-protecting Environment for Child Transplants Health Related and Genomic Data Integration in the European Reference Network"
NOT YET RECRUITINGEpithelial Dysmetabolism and Renal Fibrosis in ANCA Vasculitis
NOT YET RECRUITINGGenetic Determinants of Kidney Disease in People of African Ancestry With HIV
ACTIVE NOT RECRUITINGINSIGHT (Insight Into Nephrotic Syndrome)
RECRUITINGNational Registry of Rare Kidney Diseases
RECRUITINGExternal Resources
Links to major genomics databases and tools