TAMM41 Chromosome 3
TAM41 mitochondrial translocator assembly and maintenance homolog
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What This Gene Does
Predicted to enable phosphatidate cytidylyltransferase activity. Predicted to be involved in CDP-diacylglycerol biosynthetic process and cardiolipin biosynthetic process. Is active in mitochondrion. Implicated in combined oxidative phosphorylation deficiency 56. [provided by Alliance of Genome Resources, Jul 2025]
Associated Conditions (6)
Dysphagia
Bilateral ptosis
Gastroesophageal reflux
Respiratory failure
Combined oxidative phosphorylation deficiency 56
Acute myeloid leukemia
Key Variants
RS2125058823
Pathogenic
Dysphagia, Bilateral ptosis, Gastroesophageal reflux
Health Risk
RS768826552
Pathogenic
Dysphagia, Bilateral ptosis, Gastroesophageal reflux
Health Risk
RS775491404
Pathogenic
Combined oxidative phosphorylation deficiency 56, Combined oxidative phosphorylation deficiency 56
Health Risk
RS934260435
Pathogenic
Combined oxidative phosphorylation deficiency 56, Acute myeloid leukemia, Combined oxidative phosphorylation deficiency 56
Health Risk
All Variants (4)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2125058823 | Health Risk | Pathogenic | Dysphagia, Bilateral ptosis, Gastroesophageal reflux |
| RS768826552 | Health Risk | Pathogenic | Dysphagia, Bilateral ptosis, Gastroesophageal reflux |
| RS775491404 | Health Risk | Pathogenic | Combined oxidative phosphorylation deficiency 56, Combined oxidative phosphorylation deficiency 56 |
| RS934260435 | Health Risk | Pathogenic | Combined oxidative phosphorylation deficiency 56, Acute myeloid leukemia, Combined oxidative phosphorylation deficiency 56 |