TFAM Chromosome 10
Transcription factor A, mitochondrial
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What This Gene Does
This gene encodes a key mitochondrial transcription factor containing two high mobility group motifs. The encoded protein also functions in mitochondrial DNA replication and repair. Sequence polymorphisms in this gene are associated with Alzheimer's and Parkinson's diseases. There are pseudogenes for this gene on chromosomes 6, 7, and 11. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]
Gene Info
Gene Group
Mitochondrial transcription initiation complex subunits
Locus Type
gene with protein product
Location
10q21.1
Ensembl
ENSG00000108064
Associated Conditions (3)
Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)
TFAM-related disorder
Clear cell carcinoma of kidney
Key Variants
RS1285830482
Conflicting classifications of pathogenicity
Health Risk
RS201846997
Conflicting classifications of pathogenicity
Mitochondrial DNA depletion syndrome 15 (hepatocerebral type), TFAM-related disorder, Clear cell carcinoma of kidney
Health Risk
RS544132101
Likely pathogenic
Mitochondrial DNA depletion syndrome 15 (hepatocerebral type), Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)
Health Risk
RS757075712
Likely pathogenic
Mitochondrial DNA depletion syndrome 15 (hepatocerebral type), Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)
Health Risk
All Variants (4)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1285830482 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS201846997 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial DNA depletion syndrome 15 (hepatocerebral type), TFAM-related disorder, Clear cell carcinoma of kidney |
| RS544132101 | Health Risk | Likely pathogenic | Mitochondrial DNA depletion syndrome 15 (hepatocerebral type), Mitochondrial DNA depletion syndrome 15 (hepatocerebral type) |
| RS757075712 | Health Risk | Likely pathogenic | Mitochondrial DNA depletion syndrome 15 (hepatocerebral type), Mitochondrial DNA depletion syndrome 15 (hepatocerebral type) |