The mitochondrial transcription factor b1 (tfb1m) protein functions as a methyltransferase within the mitochondrial matrix where it dimethylates a conserved lysine residue in the 12s mitochondrial rRNA...[+]

The mitochondrial transcription factor b1 (tfb1m) protein functions as a methyltransferase within the mitochondrial matrix where it dimethylates a conserved lysine residue in the 12s mitochondrial rRNA; this methylation is required for the proper assembly of the small mitochondrial ribosomal subunit and for the translation of proteins encoded by mitochondrial DNA. Expression is detected in the brain, eye, spinal cord, notochord, heart, branchial arches, otic vesicle, and pronephros during development. [-]

ClinVar, ClinGen, MalaCards, KEGG Disease, DECIPHER, COSMIC, MARRVEL, GTR, DisGeNET, dbVAR, GHR, gnomAD