DISEASES

Disease-gene associations mined from literature

Literature associating POLRMT and Alpers-Huttenlocher syndrome

POLRMT [ENSP00000465759]

DNA-directed RNA polymerase, mitochondrial; DNA-dependent RNA polymerase catalyzes the transcription of mitochondrial DNA into RNA using the four ribonucleoside triphosphates as substrates . Component of the mitochondrial transcription initiation complex, composed at least of TFB2M, TFAM and POLRMT that is required for basal transcription of mitochondrial DNA . 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 .

Synonyms:  POLRMT,  K7EMH3,  K7ESD1,  O00411,  R4GN79 ...

Linkouts:  STRING  Pharos  UniProt