MPV17 Chromosome 2
Mitochondrial inner membrane protein MPV17
Upload your DNA to see your personal genotypes for variants in MPV17.
What This Gene Does
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]
Associated Conditions (12)
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)
Charcot-Marie-Tooth disease
axonal
type 2EE
Mitochondrial DNA depletion syndrome
MPV17-related disorder
Inborn genetic diseases
Mitochondrial DNA maintenance disorder
Uterine corpus endometrial carcinoma
Mitochondrial disease
MPV17-related mitochondrial DNA maintenance defect
Key Variants
RS112170670
Conflicting classifications of pathogenicity
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), Mitochondrial DNA depletion syndrome 15 (hepatocerebral type), Charcot-Marie-Tooth disease
Health Risk
RS1244633595
Conflicting classifications of pathogenicity
Health Risk
RS1382428056
Conflicting classifications of pathogenicity
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
Health Risk
RS142493907
Conflicting classifications of pathogenicity
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
Health Risk
RS1679497709
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease, axonal, type 2EE
Health Risk
RS200504529
Conflicting classifications of pathogenicity
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), MPV17-related disorder, Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
Health Risk
RS201202659
Conflicting classifications of pathogenicity
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
Health Risk
RS2465683495
Conflicting classifications of pathogenicity
Health Risk
RS267607264
Conflicting classifications of pathogenicity
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), Mitochondrial DNA depletion syndrome, Charcot-Marie-Tooth disease
Health Risk
RS35759430
Conflicting classifications of pathogenicity
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), MPV17-related disorder, Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
Health Risk
RS540291444
Conflicting classifications of pathogenicity
Mitochondrial DNA depletion syndrome 15 (hepatocerebral type), MPV17-related disorder, Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)
Health Risk
RS553716559
Conflicting classifications of pathogenicity
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), Charcot-Marie-Tooth disease, axonal
Health Risk
All Variants (92)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1553383480 | Health Risk | Pathogenic | Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) |
| RS1572542092 | Health Risk | Pathogenic | Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) |
| RS1572542511 | Health Risk | Pathogenic | Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), Charcot-Marie-Tooth disease, axonal |
| RS1572543564 | Health Risk | Pathogenic | Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) |
| RS1679366951 | Health Risk | Pathogenic | — |
| RS1679496794 | Health Risk | Pathogenic | Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) |
| RS1679514298 | Health Risk | Pathogenic | — |
| RS2148225515 | Health Risk | Pathogenic | — |
| RS2465669175 | Health Risk | Pathogenic | — |
| RS2465681533 | Health Risk | Pathogenic | — |
| RS2465681627 | Health Risk | Pathogenic | — |
| RS2465682726 | Health Risk | Pathogenic | — |
| RS2465682928 | Health Risk | Pathogenic | — |
| RS2465685002 | Health Risk | Pathogenic | — |
| RS2465711244 | Health Risk | Pathogenic | — |
| RS267607266 | Health Risk | Pathogenic | — |
| RS397507438 | Health Risk | Pathogenic | Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) |
| RS755624411 | Health Risk | Pathogenic | — |
| RS766160589 | Health Risk | Pathogenic | Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), Charcot-Marie-Tooth disease, axonal |
| RS121909724 | Health Risk | Pathogenic/Likely pathogenic | Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), Charcot-Marie-Tooth disease, axonal |
| RS138199394 | Health Risk | Pathogenic/Likely pathogenic | Charcot-Marie-Tooth disease, axonal, type 2EE |
| RS140992482 | Health Risk | Pathogenic/Likely pathogenic | Charcot-Marie-Tooth disease, axonal, type 2EE |
| RS1469699202 | Health Risk | Pathogenic/Likely pathogenic | Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), Charcot-Marie-Tooth disease, axonal |
| RS147952488 | Health Risk | Pathogenic/Likely pathogenic | Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), Charcot-Marie-Tooth disease, axonal |
| RS1558599953 | Health Risk | Pathogenic/Likely pathogenic | Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), Charcot-Marie-Tooth disease, axonal |
| RS1679897519 | Health Risk | Pathogenic/Likely pathogenic | Charcot-Marie-Tooth disease, axonal, type 2EE |
| RS200938111 | Health Risk | Pathogenic/Likely pathogenic | Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) |
| RS2148216335 | Health Risk | Pathogenic/Likely pathogenic | Charcot-Marie-Tooth disease, axonal, type 2EE |
| RS2465681789 | Health Risk | Pathogenic/Likely pathogenic | Charcot-Marie-Tooth disease, axonal, type 2EE |
| RS2465685264 | Health Risk | Pathogenic/Likely pathogenic | Charcot-Marie-Tooth disease, axonal, type 2EE |
| RS2465685275 | Health Risk | Pathogenic/Likely pathogenic | Charcot-Marie-Tooth disease, axonal, type 2EE |
| RS267607260 | Health Risk | Pathogenic/Likely pathogenic | Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) |
| RS267607261 | Health Risk | Pathogenic/Likely pathogenic | Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), MPV17-related mitochondrial DNA maintenance defect, Mitochondrial DNA depletion syndrome 15 (hepatocerebral type) |
| RS267607263 | Health Risk | Pathogenic/Likely pathogenic | Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), Charcot-Marie-Tooth disease, axonal |
| RS267607267 | Health Risk | Pathogenic/Likely pathogenic | Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), Mitochondrial DNA depletion syndrome 15 (hepatocerebral type), Charcot-Marie-Tooth disease |
| RS267607268 | Health Risk | Pathogenic/Likely pathogenic | Mitochondrial DNA depletion syndrome, Mitochondrial DNA depletion syndrome |
| RS763400903 | Health Risk | Pathogenic/Likely pathogenic | Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), Charcot-Marie-Tooth disease, axonal |
| RS771182936 | Health Risk | Pathogenic/Likely pathogenic | Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) |
| RS774833271 | Health Risk | Pathogenic/Likely pathogenic | Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), Charcot-Marie-Tooth disease, axonal |
| RS777604559 | Health Risk | Pathogenic/Likely pathogenic | Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), Charcot-Marie-Tooth disease, axonal |
| RS863224074 | Health Risk | Pathogenic/Likely pathogenic | Charcot-Marie-Tooth disease, axonal, type 2EE |
| RS886044280 | Health Risk | Pathogenic/Likely pathogenic | — |