MICOS13 Chromosome 19
Mitochondrial contact site and cristae organizing system subunit 13
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What This Gene Does
Involved in cristae formation. Located in mitochondrial crista junction and nucleoplasm. Part of MICOS complex. Implicated in combined oxidative phosphorylation deficiency 37. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
Mitochondrial contact site and cristae organizing system subunits
Locus Type
gene with protein product
Location
19p13.3
Ensembl
ENSG00000174917
Associated Conditions (3)
Mitochondrial hepato-encephalopathy
Combined oxidative phosphorylation deficiency 37
Inborn genetic diseases
Key Variants
RS1568293814
Conflicting classifications of pathogenicity
Mitochondrial hepato-encephalopathy, Combined oxidative phosphorylation deficiency 37, Mitochondrial hepato-encephalopathy
Health Risk
RS751944867
Conflicting classifications of pathogenicity
Combined oxidative phosphorylation deficiency 37, Combined oxidative phosphorylation deficiency 37
Health Risk
RS759580358
Conflicting classifications of pathogenicity
Health Risk
RS1407611048
Likely pathogenic
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1064797230
Pathogenic
Combined oxidative phosphorylation deficiency 37, Combined oxidative phosphorylation deficiency 37
Health Risk
RS1568293849
Pathogenic
Combined oxidative phosphorylation deficiency 37, Combined oxidative phosphorylation deficiency 37
Health Risk
All Variants (6)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1568293814 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial hepato-encephalopathy, Combined oxidative phosphorylation deficiency 37, Mitochondrial hepato-encephalopathy |
| RS751944867 | Health Risk | Conflicting classifications of pathogenicity | Combined oxidative phosphorylation deficiency 37, Combined oxidative phosphorylation deficiency 37 |
| RS759580358 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1407611048 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1064797230 | Health Risk | Pathogenic | Combined oxidative phosphorylation deficiency 37, Combined oxidative phosphorylation deficiency 37 |
| RS1568293849 | Health Risk | Pathogenic | Combined oxidative phosphorylation deficiency 37, Combined oxidative phosphorylation deficiency 37 |