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The protein encoded by this gene is a CCA-adding enzyme which belongs to the tRNA nucleotidyltransferase/poly(A) polymerase family. This essential enzyme functions by catalyzing the addition of the conserved nucleotide triplet CCA to the 3' terminus of tRNA molecules. Mutations in this gene result in sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]
Q96Q11 [Direct mapping] CCA tRNA nucleotidyltransferase 1, mitochondrial
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Enzymes ENZYME proteins Transferases Predicted intracellular proteins Disease related genes Potential drug targets Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Q96Q11 [Direct mapping] CCA tRNA nucleotidyltransferase 1, mitochondrial
Show all
Enzymes ENZYME proteins Transferases Predicted intracellular proteins Disease related genes Potential drug targets Protein evidence (Ezkurdia et al 2014)
Q96Q11 [Direct mapping] CCA tRNA nucleotidyltransferase 1, mitochondrial
Show all
Enzymes ENZYME proteins Transferases Predicted intracellular proteins Disease related genes Potential drug targets Protein evidence (Ezkurdia et al 2014)
Q96Q11 [Direct mapping] CCA tRNA nucleotidyltransferase 1, mitochondrial
Show all
Enzymes ENZYME proteins Transferases Predicted intracellular proteins Disease related genes Potential drug targets Protein evidence (Ezkurdia et al 2014)
Q96Q11 [Direct mapping] CCA tRNA nucleotidyltransferase 1, mitochondrial
Show all
Enzymes ENZYME proteins Transferases Predicted intracellular proteins Disease related genes Potential drug targets Protein evidence (Ezkurdia et al 2014)