TIMMDC1 Chromosome 3
Translocase of inner mitochondrial membrane domain containing 1
Upload your DNA to see your personal genotypes for variants in TIMMDC1.
What This Gene Does
Predicted to be involved in mitochondrial respiratory chain complex I assembly. Located in mitochondrion and nucleoplasm. Implicated in nuclear type mitochondrial complex I deficiency 31. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
"Mitochondrial respiratory chain complex assembly factors|Tim17 family"
Locus Type
gene with protein product
Location
3q13.33
Ensembl
ENSG00000113845
Associated Conditions (4)
See cases
Mitochondrial complex I deficiency
nuclear type 31
nuclear type 1
Key Variants
RS142096113
Conflicting classifications of pathogenicity
See cases, Mitochondrial complex I deficiency, nuclear type 31
Health Risk
RS370482859
Conflicting classifications of pathogenicity
Mitochondrial complex I deficiency, nuclear type 31, Mitochondrial complex I deficiency
Health Risk
RS779953541
Conflicting classifications of pathogenicity
Mitochondrial complex I deficiency, nuclear type 1, Mitochondrial complex I deficiency
Health Risk
RS2473061402
Likely pathogenic
Mitochondrial complex I deficiency, nuclear type 1, Mitochondrial complex I deficiency
Health Risk
RS2473061411
Likely pathogenic
Mitochondrial complex I deficiency, nuclear type 31, Mitochondrial complex I deficiency
Health Risk
RS752776605
Likely pathogenic
Mitochondrial complex I deficiency, nuclear type 31, Mitochondrial complex I deficiency
Health Risk
RS781525096
Pathogenic
Mitochondrial complex I deficiency, nuclear type 31, Mitochondrial complex I deficiency
Health Risk
RS773031917
Pathogenic/Likely pathogenic
Mitochondrial complex I deficiency, nuclear type 31, Mitochondrial complex I deficiency
Health Risk
RS970547270
Pathogenic/Likely pathogenic
Mitochondrial complex I deficiency, nuclear type 31, Mitochondrial complex I deficiency
Health Risk
All Variants (9)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS142096113 | Health Risk | Conflicting classifications of pathogenicity | See cases, Mitochondrial complex I deficiency, nuclear type 31 |
| RS370482859 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex I deficiency, nuclear type 31, Mitochondrial complex I deficiency |
| RS779953541 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex I deficiency, nuclear type 1, Mitochondrial complex I deficiency |
| RS2473061402 | Health Risk | Likely pathogenic | Mitochondrial complex I deficiency, nuclear type 1, Mitochondrial complex I deficiency |
| RS2473061411 | Health Risk | Likely pathogenic | Mitochondrial complex I deficiency, nuclear type 31, Mitochondrial complex I deficiency |
| RS752776605 | Health Risk | Likely pathogenic | Mitochondrial complex I deficiency, nuclear type 31, Mitochondrial complex I deficiency |
| RS781525096 | Health Risk | Pathogenic | Mitochondrial complex I deficiency, nuclear type 31, Mitochondrial complex I deficiency |
| RS773031917 | Health Risk | Pathogenic/Likely pathogenic | Mitochondrial complex I deficiency, nuclear type 31, Mitochondrial complex I deficiency |
| RS970547270 | Health Risk | Pathogenic/Likely pathogenic | Mitochondrial complex I deficiency, nuclear type 31, Mitochondrial complex I deficiency |