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Diseases
INTERMEDIARY METABOLISM: ENERGY
10 Disorders of mitochondrial gene expression
10.1 Disorders of mitochondrial transcript processing and modification
Mitochondrial RNA polymerase deficiency
Mitochondrial RNA import protein deficiency
Mitochondrial transcription factor A deficiency
Ribonuclease P 5' tRNA processing enzyme deficiency
HSD10 disease
RNase P catalytic subunit deficiency
Ribonuclease Z 3' tRNA processing enzyme deficiency
Mitochondrial poly(A) polymerase deficiency
Mitochondrial poly(A) exoribonuclease deficiency
CCA-adding tRNA-nucleotidyltransferase deficiency
Mitochondrial methionyl-tRNA formyltransferase deficiency
Mitochondrial methionyl-tRNA methyltransferase deficiency
tRNA 5-taurinomethyluridine modifier deficiency
tRNA 5-carboxymethylaminomethyl transferase deficiency
Pseudouridine synthase 1 deficiency
tRNA isopentenyl transferase deficiency
tRNA methyltransferase 5 deficiency
tRNA 5-methylaminomethyl-2-thiouridylate-methyltransferase deficiency
tRNA-His guanylyltransferase 1 like deficiency
Genes
Gene products
Pathways
Multimers
More information
About Online IMD
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Home
Diseases
INTERMEDIARY METABOLISM: ENERGY
10 Disorders of mitochondrial gene expression
10.1 Disorders of mitochondrial transcript processing and modification
Mitochondrial RNA polymerase deficiency
Mitochondrial RNA import protein deficiency
Mitochondrial transcription factor A deficiency
Ribonuclease P 5' tRNA processing enzyme deficiency
HSD10 disease
RNase P catalytic subunit deficiency
Ribonuclease Z 3' tRNA processing enzyme deficiency
Mitochondrial poly(A) polymerase deficiency
Mitochondrial poly(A) exoribonuclease deficiency
CCA-adding tRNA-nucleotidyltransferase deficiency
Mitochondrial methionyl-tRNA formyltransferase deficiency
Mitochondrial methionyl-tRNA methyltransferase deficiency
tRNA 5-taurinomethyluridine modifier deficiency
tRNA 5-carboxymethylaminomethyl transferase deficiency
Pseudouridine synthase 1 deficiency
tRNA isopentenyl transferase deficiency
tRNA methyltransferase 5 deficiency
tRNA 5-methylaminomethyl-2-thiouridylate-methyltransferase deficiency
tRNA-His guanylyltransferase 1 like deficiency
Genes
Gene products
Pathways
Multimers
More information
About Online IMD
tRNA isopentenyl transferase deficiency
Type
Disease
External link(s)
IEMbase
Gene
TRIT1
/ tRNA Isopentenyltransferase 1
1p34.2
OMIM
GnomAD
Ensembl
HGNC
VMH
LOVD
Gene product
tRNA Isopentenyltransferase 1
Disease group(s)
10.1 Disorders of mitochondrial transcript processing and modification