TIMM50 Chromosome 19
Translocase of inner mitochondrial membrane 50
Upload your DNA to see your personal genotypes for variants in TIMM50.
What This Gene Does
This gene encodes a subunit of the TIM23 inner mitochondrial membrane translocase complex. The encoded protein functions as the receptor subunit that recognizes the mitochondrial targeting signal, or presequence, on protein cargo that is destined for the mitochondrial inner membrane and matrix. This protein may also play a role in maintaining the membrane permeability barrier, and knockdown of this gene in human cells results in the release of cytochrome c and apoptosis. [provided by RefSeq, Jul 2016]
Gene Info
Gene Group
CTD family phosphatases
Locus Type
gene with protein product
Location
19q13.2
Ensembl
ENSG00000105197
Associated Conditions (5)
TIMM50-related disorder
Inborn genetic diseases
3-methylglutaconic aciduria type 9
Mitochondrial disease
Mitochondrial encephalopathy
Key Variants
RS11545196
Conflicting classifications of pathogenicity
TIMM50-related disorder, Inborn genetic diseases, TIMM50-related disorder
Health Risk
RS1166132682
Conflicting classifications of pathogenicity
3-methylglutaconic aciduria type 9, 3-methylglutaconic aciduria type 9
Health Risk
RS1449758112
Conflicting classifications of pathogenicity
3-methylglutaconic aciduria type 9, Inborn genetic diseases, 3-methylglutaconic aciduria type 9
Health Risk
RS368335134
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS760304945
Conflicting classifications of pathogenicity
3-methylglutaconic aciduria type 9, 3-methylglutaconic aciduria type 9
Health Risk
RS765887398
Conflicting classifications of pathogenicity
3-methylglutaconic aciduria type 9, Mitochondrial disease, 3-methylglutaconic aciduria type 9
Health Risk
RS1244226820
Likely pathogenic
3-methylglutaconic aciduria type 9, 3-methylglutaconic aciduria type 9
Health Risk
RS1457024558
Likely pathogenic
3-methylglutaconic aciduria type 9, 3-methylglutaconic aciduria type 9
Health Risk
RS1305711807
Pathogenic
3-methylglutaconic aciduria type 9, 3-methylglutaconic aciduria type 9
Health Risk
RS35135520
Pathogenic
Mitochondrial encephalopathy, 3-methylglutaconic aciduria type 9, Mitochondrial encephalopathy
Health Risk
RS776019250
Pathogenic
Mitochondrial encephalopathy, 3-methylglutaconic aciduria type 9, Mitochondrial encephalopathy
Health Risk
RS797044891
Pathogenic
Inborn genetic diseases, 3-methylglutaconic aciduria type 9, Inborn genetic diseases
Health Risk
All Variants (12)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS11545196 | Health Risk | Conflicting classifications of pathogenicity | TIMM50-related disorder, Inborn genetic diseases, TIMM50-related disorder |
| RS1166132682 | Health Risk | Conflicting classifications of pathogenicity | 3-methylglutaconic aciduria type 9, 3-methylglutaconic aciduria type 9 |
| RS1449758112 | Health Risk | Conflicting classifications of pathogenicity | 3-methylglutaconic aciduria type 9, Inborn genetic diseases, 3-methylglutaconic aciduria type 9 |
| RS368335134 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS760304945 | Health Risk | Conflicting classifications of pathogenicity | 3-methylglutaconic aciduria type 9, 3-methylglutaconic aciduria type 9 |
| RS765887398 | Health Risk | Conflicting classifications of pathogenicity | 3-methylglutaconic aciduria type 9, Mitochondrial disease, 3-methylglutaconic aciduria type 9 |
| RS1244226820 | Health Risk | Likely pathogenic | 3-methylglutaconic aciduria type 9, 3-methylglutaconic aciduria type 9 |
| RS1457024558 | Health Risk | Likely pathogenic | 3-methylglutaconic aciduria type 9, 3-methylglutaconic aciduria type 9 |
| RS1305711807 | Health Risk | Pathogenic | 3-methylglutaconic aciduria type 9, 3-methylglutaconic aciduria type 9 |
| RS35135520 | Health Risk | Pathogenic | Mitochondrial encephalopathy, 3-methylglutaconic aciduria type 9, Mitochondrial encephalopathy |
| RS776019250 | Health Risk | Pathogenic | Mitochondrial encephalopathy, 3-methylglutaconic aciduria type 9, Mitochondrial encephalopathy |
| RS797044891 | Health Risk | Pathogenic | Inborn genetic diseases, 3-methylglutaconic aciduria type 9, Inborn genetic diseases |