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Homo sapiens cDNA FLJ40838 fis, clone TRACH2013552

GenBank: AK098157.1

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Articles about the TBCK gene

Mutation Of TBC1 Domain Containing Kinase (TBCK) With Associated Intellectual Disability And Hypotonia. [J Pak Med Assoc. 2023]
Mutation Of TBC1 Domain Containing Kinase (TBCK) With Associated Intellectual Disability And Hypotonia.
Chand P, Sulaiman A, Kirmani S. J Pak Med Assoc. 2023 Oct; 73(10):2083-2085.
TBCK syndrome: a rare multi-organ neurodegenerative disease. [Trends Mol Med. 2023]
TBCK syndrome: a rare multi-organ neurodegenerative disease.
Durham EL, Angireddy R, Black A, Melendez-Perez A, Smith S, Gonzalez EM, Navarro KG, Díaz A, Bhoj EJK, Katsura KA. Trends Mol Med. 2023 Oct; 29(10):783-785. Epub 2023 Jul 14.
Heterozygous variants in TBCK cause a mild neurologic syndrome in humans and mice. [Am J Med Genet A. 2023]
Heterozygous variants in TBCK cause a mild neurologic syndrome in humans and mice.
Nair D, Diaz-Rosado A, Varella-Branco E, Ramos I, Black A, Angireddy R, Park J, Murali S, Yoon A, Ciesielski B, et al. Am J Med Genet A. 2023 Oct; 191(10):2508-2517. Epub 2023 Jun 23.

Reference sequence information

RefSeq alternative splicing
See 29 reference mRNA sequence splice variants for the TBCK gene.

More about the TBCK gene

This gene encodes a protein that contains a protein kinase domain, a Rhodanase-like domain and the Tre-2/Bub2/Cdc16 (TBC) domain. The encode...
Also Known As: FERRY1, Fy-1, HSPC302, ...

Related information

Protein
Protein sequence from Nucleotide coding region
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reagents [ExactAntigen/Labome]
reagents
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