RecName: Full=CCA tRNA nucleotidyltransferase 1, mitochondrial; AltNam - Protein

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TRNT-1 Deficiency Is Associated with Loss of tRNA Integrity and Imbalance of Distinct Proteins. [Genes (Basel). 2023]
TRNT-1 Deficiency Is Associated with Loss of tRNA Integrity and Imbalance of Distinct Proteins.
Fatica T, Naas T, Liwak U, Slaa H, Souaid M, Frangione B, Kattini R, Gaudreau-Lapierre A, Trinkle-Mulcahy L, Chakraborty P, et al. Genes (Basel). 2023 May 5; 14(5). Epub 2023 May 5.
A phenotypic expansion of TRNT1 associated sideroblastic anemia with immunodeficiency, fevers, and developmental delay. [Am J Med Genet A. 2022]
A phenotypic expansion of TRNT1 associated sideroblastic anemia with immunodeficiency, fevers, and developmental delay.
Odom J, Amin H, Gijavanekar C, Elsea SH, Kralik S, Chinen J, Lin Y, Yates AMM, Mizerik E, Potocki L, et al. Am J Med Genet A. 2022 Jan; 188(1):259-268. Epub 2021 Sep 12.
Two cases of sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD) syndrome in Chinese Han children caused by novel compound heterozygous variants of the TRNT1 gene. [Clin Chim Acta. 2021]
Two cases of sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD) syndrome in Chinese Han children caused by novel compound heterozygous variants of the TRNT1 gene.
Wang J, Deng Q, He X, Chen D, Hang S, Gao Y, Chen Y. Clin Chim Acta. 2021 Oct; 521:244-250. Epub 2021 Jul 24.

RefSeq genomic sequence
See the genomic reference sequence for the TRNT1 gene (NG_041800.2).
RefSeq protein isoforms
See 9 reference sequence protein isoforms for the TRNT1 gene.

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Q96Q11 [Domain Mapping of Disease Mut...]
Q96Q11
Domain Mapping of Disease Mutations
Transcript/Protein Information [PANTHER Classification System]
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reagents [ExactAntigen/Labome]
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ExactAntigen/Labome

RecName: Full=CCA tRNA nucleotidyltransferase 1, mitochondrial; AltName: Full=Mi...
RecName: Full=CCA tRNA nucleotidyltransferase 1, mitochondrial; AltName: Full=Mitochondrial tRNA nucleotidyl transferase, CCA-adding; AltName: Full=mt CCA-adding enzyme; AltName: Full=mt tRNA CCA-diphosphorylase; AltName: Full=mt tRNA CCA-pyrophosphorylase; AltName: Full=mt tRNA adenylyltransferase; Flags: Precursor
gi|296452848|sp|Q96Q11.2|TRNT1_HUMA

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