thiamine pyrophosphokinase 1 isoform d [Homo sapiens]

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Pyrimidines maintain mitochondrial pyruvate oxidation to support de novo lipogenesis. [Science. 2024]
Pyrimidines maintain mitochondrial pyruvate oxidation to support de novo lipogenesis.
Sahu U, Villa E, Reczek CR, Zhao Z, O'Hara BP, Torno MD, Mishra R, Shannon WD, Asara JM, Gao P, et al. Science. 2024 Mar 29; 383(6690):1484-1492. Epub 2024 Mar 28.
Thiamine Treatment and Favorable Outcome in an Infant with Biallelic TPK1 Variants. [Neuropediatrics. 2021]
Thiamine Treatment and Favorable Outcome in an Infant with Biallelic TPK1 Variants.
Eckenweiler M, Mayr JA, Grünert S, Abicht A, Korinthenberg R. Neuropediatrics. 2021 Apr; 52(2):123-125. Epub 2020 Oct 21.
Movement disorders associated with thiamine pyrophosphokinase deficiency: Intrafamilial variability in the phenotype. [Clin Neurol Neurosurg. 2020]
Movement disorders associated with thiamine pyrophosphokinase deficiency: Intrafamilial variability in the phenotype.
Au LWC, Lee HHC, Sheng B, Chan KY, Yau EKC, Mak CM, Chan AYW, Chan AYY, Lau CKY, Mok VCT, et al. Clin Neurol Neurosurg. 2020 Dec; 199:106258. Epub 2020 Sep 30.

RefSeq genomic sequence
See the genomic reference sequence for the TPK1 gene (NG_032112.2).
RefSeq mRNA
See reference mRNA sequence for the TPK1 gene (NM_001350883.1).
RefSeq protein isoforms
See 65 reference sequence protein isoforms for the TPK1 gene.

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Protein