RecName: Full=tRNA (carboxymethyluridine(34)-5-O)-methyltransferase AL - Protein

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The first Turkish family with a novel biallelic missense variant of the ALKBH8 gene: A study on the clinical and variant spectrum of ALKBH8-related intellectual developmental disorders. [Am J Med Genet A. 2024]
The first Turkish family with a novel biallelic missense variant of the ALKBH8 gene: A study on the clinical and variant spectrum of ALKBH8-related intellectual developmental disorders.
Yılmaz M, Kamaşak T, Teralı K, Çebi AH, Türkyılmaz A. Am J Med Genet A. 2024 May; 194(5):e63535. Epub 2024 Jan 8.
HITS-CLIP analysis of human ALKBH8 reveals interactions with fully processed substrate tRNAs and with specific noncoding RNAs. [RNA. 2022]
HITS-CLIP analysis of human ALKBH8 reveals interactions with fully processed substrate tRNAs and with specific noncoding RNAs.
Cavallin I, Bartosovic M, Skalicky T, Rengaraj P, Demko M, Schmidt-Dengler MC, Drino A, Helm M, Vanacova S. RNA. 2022 Dec; 28(12):1568-1581. Epub 2022 Oct 3.
Insight into ALKBH8-related intellectual developmental disability based on the first pathogenic missense variant. [Hum Genet. 2022]
Insight into ALKBH8-related intellectual developmental disability based on the first pathogenic missense variant.
Maddirevula S, Alameer S, Ewida N, de Sousa MML, Bjørås M, Vågbø CB, Alkuraya FS. Hum Genet. 2022 Feb; 141(2):209-215. Epub 2021 Nov 10.

RefSeq protein isoforms
See 9 reference sequence protein isoforms for the ALKBH8 gene.

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Q96BT7 [Domain Mapping of Disease Mut...]
Q96BT7
Domain Mapping of Disease Mutations
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Protein