Aliases for TFAM Gene
External Ids for TFAM Gene
Previous HGNC Symbols for TFAM Gene
Previous GeneCards Identifiers for TFAM 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]
GeneCards Summary for TFAM Gene
TFAM (Transcription Factor A, Mitochondrial) is a Protein Coding gene. Diseases associated with TFAM include skin carcinoma in situ and extrahepatic cholestasis. Among its related pathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and Chromatin Regulation / Acetylation. GO annotations related to this gene include poly(A) RNA binding and chromatin binding.
UniProtKB/Swiss-Prot for TFAM Gene
Binds to the mitochondrial light strand promoter and functions in mitochondrial transcription regulation. 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.