TFAM gene

transcription factor A, mitochondrial

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From UniProt:

Binds to the mitochondrial light strand promoter and functions in mitochondrial transcription regulation (PubMed:29445193). Component of the mitochondrial transcription initiation complex, composed at least of TFB2M, TFAM and POLRMT that is required for basal transcription of mitochondrial DNA (PubMed:29149603). In this complex, TFAM recruits POLRMT to a specific promoter whereas TFB2M induces structural changes in POLRMT to enable promoter opening and trapping of the DNA non-template strand (PubMed:29149603). Required for accurate and efficient promoter recognition by the mitochondrial RNA polymerase. Promotes transcription initiation from the HSP1 and the light strand promoter by binding immediately upstream of transcriptional start sites. Is able to unwind DNA. Bends the mitochondrial light strand promoter DNA into a U-turn shape via its HMG boxes. Required for maintenance of normal levels of mitochondrial DNA. May play a role in organizing and compacting mitochondrial DNA.

From NCBI Gene:

  • Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)

From UniProt:

Mitochondrial DNA depletion syndrome 15, hepatocerebral type (MTDPS15): An autosomal recessive mitochondrial disorder characterized by severe intrauterine growth restriction, neonatal-onset hypoglycemia and liver dysfunction, mitochondrial DNA depletion in liver and skeletal muscle, and abnormal mitochondrial morphology observed in skeletal muscle. Hepatic pathology includes cirrhosis, steatosis and cholestasis. Progression to liver failure and death is rapid with no evidence of neurological impairment or other organ involvement. [MIM:617156]

Cytogenetic Location: 10q21.1, which is the long (q) arm of chromosome 10 at position 21.1

Molecular Location: base pairs 58,385,143 to 58,399,230 on chromosome 10 (Homo sapiens Updated Annotation Release 109.20200522, GRCh38.p13) (NCBI)

Cytogenetic Location: 10q21.1, which is the long (q) arm of chromosome 10 at position 21.1
  • MTDPS15
  • MTTF1
  • TCF6
  • TCF6L1
  • TCF6L2
  • TCF6L3