DISEASES

Disease-gene associations mined from literature

Literature associating MTERF3 and Bjornstad syndrome

MTERF3 [ENSP00000287025]

Transcription termination factor 3, mitochondrial; Binds promoter DNA and regulates initiation of transcription . Required for normal mitochondrial transcription and translation, and for normal assembly of mitochondrial respiratory complexes. Required for normal mitochondrial function (By similarity). Maintains 16S rRNA levels and functions in mitochondrial ribosome assembly by regulating the biogenesis of the 39S ribosomal subunit (By similarity); Belongs to the mTERF family.

Synonyms:  MTERF3,  MTERF3p,  hMTERF3,  E5RI75,  E5RIK9 ...

Linkouts:  STRING  Pharos  UniProt