TIMM8A Chromosome X
Translocase of inner mitochondrial membrane 8A
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What This Gene Does
This translocase is involved in the import and insertion of hydrophobic membrane proteins from the cytoplasm into the mitochondrial inner membrane. The gene is mutated in Mohr-Tranebjaerg syndrome/Deafness Dystonia Syndrome (MTS/DDS) and it is postulated that MTS/DDS is a mitochondrial disease caused by a defective mitochondrial protein import system. Defects in this gene also cause Jensen syndrome; an X-linked disease with opticoacoustic nerve atrophy and muscle weakness. This protein, along with TIMM13, forms a 70 kDa heterohexamer. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Mar 2009]
Associated Conditions (6)
Auditory neuropathy
Deafness dystonia syndrome
Inborn genetic diseases
Thyroid cancer
nonmedullary
1
Key Variants
RS1054895
Conflicting classifications of pathogenicity
Health Risk
RS1555976134
Conflicting classifications of pathogenicity
Auditory neuropathy, Auditory neuropathy
Health Risk
RS1926076610
Conflicting classifications of pathogenicity
Deafness dystonia syndrome, Deafness dystonia syndrome
Health Risk
RS201897402
Conflicting classifications of pathogenicity
Health Risk
RS1602996815
Likely pathogenic
Deafness dystonia syndrome, Inborn genetic diseases, Deafness dystonia syndrome
Health Risk
RS2147416060
Likely pathogenic
Deafness dystonia syndrome, Deafness dystonia syndrome
Health Risk
RS80356560
Likely pathogenic
Deafness dystonia syndrome, Deafness dystonia syndrome
Health Risk
RS863224234
Likely pathogenic
Health Risk
RS1054894
Pathogenic
Deafness dystonia syndrome, Deafness dystonia syndrome
Health Risk
RS111033631
Pathogenic
Deafness dystonia syndrome, Deafness dystonia syndrome
Health Risk
RS1926076502
Pathogenic
Thyroid cancer, nonmedullary, 1
Health Risk
RS2147416123
Pathogenic
Deafness dystonia syndrome, Deafness dystonia syndrome
Health Risk
All Variants (20)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1054895 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1555976134 | Health Risk | Conflicting classifications of pathogenicity | Auditory neuropathy, Auditory neuropathy |
| RS1926076610 | Health Risk | Conflicting classifications of pathogenicity | Deafness dystonia syndrome, Deafness dystonia syndrome |
| RS201897402 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1602996815 | Health Risk | Likely pathogenic | Deafness dystonia syndrome, Inborn genetic diseases, Deafness dystonia syndrome |
| RS2147416060 | Health Risk | Likely pathogenic | Deafness dystonia syndrome, Deafness dystonia syndrome |
| RS80356560 | Health Risk | Likely pathogenic | Deafness dystonia syndrome, Deafness dystonia syndrome |
| RS863224234 | Health Risk | Likely pathogenic | — |
| RS1054894 | Health Risk | Pathogenic | Deafness dystonia syndrome, Deafness dystonia syndrome |
| RS111033631 | Health Risk | Pathogenic | Deafness dystonia syndrome, Deafness dystonia syndrome |
| RS1926076502 | Health Risk | Pathogenic | Thyroid cancer, nonmedullary, 1 |
| RS2147416123 | Health Risk | Pathogenic | Deafness dystonia syndrome, Deafness dystonia syndrome |
| RS2147418146 | Health Risk | Pathogenic | Deafness dystonia syndrome, Deafness dystonia syndrome |
| RS2520471010 | Health Risk | Pathogenic | Deafness dystonia syndrome, Deafness dystonia syndrome |
| RS80356559 | Health Risk | Pathogenic | Deafness dystonia syndrome, Deafness dystonia syndrome |
| RS869320664 | Health Risk | Pathogenic | Deafness dystonia syndrome, Deafness dystonia syndrome |
| RS869320665 | Health Risk | Pathogenic | Deafness dystonia syndrome, Deafness dystonia syndrome |
| RS869320666 | Health Risk | Pathogenic | Deafness dystonia syndrome, Deafness dystonia syndrome |
| RS869320667 | Health Risk | Pathogenic | Deafness dystonia syndrome, Deafness dystonia syndrome |
| RS869320733 | Health Risk | Pathogenic | Deafness dystonia syndrome, Deafness dystonia syndrome |