This gene encodes a leucine-rich protein that has multiple pentatricopeptide repeats (PPR). The precise role of this protein is unknown but studies suggest it may play a role in cytoskeletal organization, vesicular transport, or in transcriptional regulation of both nuclear and mitochondrial genes. The protein localizes primarily to mitochondria and is predicted to have an N-terminal mitochondrial targeting sequence. Mutations in this gene are associated with the French-Canadian type of Leigh syndrome. [provided by RefSeq, Mar 2012].
Kasashima, Sumitani, Endo: "Human mitochondrial transcription factor A is required for the segregation of mitochondrial DNA in cultured cells." in: Experimental cell research, Vol. 317, Issue 2, pp. 210-20, (2010) (PubMed).