DISEASES

Disease-gene associations mined from literature

Literature associating GTF3C1 and distal spinal muscular atrophy 1

GTF3C1 [ENSP00000348510]

General transcription factor 3C polypeptide 1; Required for RNA polymerase III-mediated transcription. Component of TFIIIC that initiates transcription complex assembly on tRNA and is required for transcription of 5S rRNA and other stable nuclear and cytoplasmic RNAs. Binds to the box B promoter element.

Synonyms:  GTF3C1,  GTF3C1p,  hGTF3C1,  H3BRD0,  H3BU37 ...

Linkouts:  STRING  Pharos  UniProt  OMIM