MIPEP Chromosome 13
Mitochondrial intermediate peptidase
Upload your DNA to see your personal genotypes for variants in MIPEP.
What This Gene Does
The product of this gene performs the final step in processing a specific class of nuclear-encoded proteins targeted to the mitochondrial matrix or inner membrane. This protein is primarily involved in the maturation of oxidative phosphorylation (OXPHOS)-related proteins. This gene may contribute to the functional effects of frataxin deficiency and the clinical manifestations of Friedreich ataxia. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
M3 metallopeptidase family
Locus Type
gene with protein product
Location
13q12.12
Ensembl
ENSG00000027001
Associated Conditions (8)
Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome
Cardiomyopathy
Left ventricular noncompaction
Floppy infant
Inborn genetic diseases
Sarcoma
Cervical cancer
Familial cancer of breast
Key Variants
RS1057518741
Conflicting classifications of pathogenicity
Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome, Cardiomyopathy, Left ventricular noncompaction
Health Risk
RS139684349
Conflicting classifications of pathogenicity
Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome, Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome
Health Risk
RS143912947
Conflicting classifications of pathogenicity
Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome, Floppy infant, Cardiomyopathy
Health Risk
RS150167906
Conflicting classifications of pathogenicity
Inborn genetic diseases, Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome, Inborn genetic diseases
Health Risk
RS367730807
Conflicting classifications of pathogenicity
Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome, Inborn genetic diseases, Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome
Health Risk
RS373751183
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS41315044
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS557275294
Conflicting classifications of pathogenicity
Inborn genetic diseases, Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome, Sarcoma
Health Risk
RS567713935
Conflicting classifications of pathogenicity
Inborn genetic diseases, Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome, Inborn genetic diseases
Health Risk
RS751101220
Conflicting classifications of pathogenicity
Inborn genetic diseases, Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome, Inborn genetic diseases
Health Risk
RS756060769
Conflicting classifications of pathogenicity
Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome, Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome
Health Risk
RS779598020
Conflicting classifications of pathogenicity
Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome, Cardiomyopathy, Left ventricular noncompaction
Health Risk
All Variants (24)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1057518741 | Health Risk | Conflicting classifications of pathogenicity | Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome, Cardiomyopathy, Left ventricular noncompaction |
| RS139684349 | Health Risk | Conflicting classifications of pathogenicity | Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome, Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome |
| RS143912947 | Health Risk | Conflicting classifications of pathogenicity | Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome, Floppy infant, Cardiomyopathy |
| RS150167906 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome, Inborn genetic diseases |
| RS367730807 | Health Risk | Conflicting classifications of pathogenicity | Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome, Inborn genetic diseases, Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome |
| RS373751183 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS41315044 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS557275294 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome, Sarcoma |
| RS567713935 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome, Inborn genetic diseases |
| RS751101220 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome, Inborn genetic diseases |
| RS756060769 | Health Risk | Conflicting classifications of pathogenicity | Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome, Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome |
| RS779598020 | Health Risk | Conflicting classifications of pathogenicity | Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome, Cardiomyopathy, Left ventricular noncompaction |
| RS1408067328 | Health Risk | Likely pathogenic | Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome, Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome |
| RS1869287041 | Health Risk | Likely pathogenic | Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome, Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome |
| RS2547645010 | Health Risk | Likely pathogenic | Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome, Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome |
| RS368537909 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS780379456 | Health Risk | Likely pathogenic | Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome, Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome |
| RS780533096 | Health Risk | Likely pathogenic | Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome, Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome |
| RS780915621 | Health Risk | Likely pathogenic | Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome, Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome |
| RS114638163 | Health Risk | Pathogenic | Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome, Cardiomyopathy, Left ventricular noncompaction |
| RS2500181159 | Health Risk | Pathogenic | — |
| RS746329051 | Health Risk | Pathogenic | — |
| RS773688171 | Health Risk | Pathogenic | Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome, Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome |
| RS866158774 | Health Risk | Pathogenic/Likely pathogenic | Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome, Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome |