Disease-gene associations mined from literature

Literature associating MTERF1 and progressive myoclonus epilepsy 8

MTERF1 [ENSP00000248643]

Transcription termination factor 1, mitochondrial; Transcription termination factor. Binds to a 28 bp region within the tRNA(Leu(uur)) gene at a position immediately adjacent to and downstream of the 16S rRNA gene; this region comprises a tridecamer sequence critical for directing accurate termination. Binds DNA along the major grove and promotes DNA bending and partial unwinding. Promotes base flipping. Transcription termination activity appears to be polarized with highest specificity for transcripts initiated on the light strand; Belongs to the mTERF family.

Synonyms:  MTERF1,  MTERF1p,  hMTERF1,  B4DPR9,  C9JE25 ...

Linkouts:  STRING  Pharos  UniProt