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order histories, retained contact details for faster checkout, review submissions, and special promotions.
Registration enables users to use special features of this website, such as past
order histories, retained contact details for faster checkout, review submissions, and special promotions.
Registration enables users to use special features of this website, such as past
order histories, retained contact details for faster checkout, review submissions, and special promotions.
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ADCK4
aarF domain containing kinase 4
ADCK4 is a protein with two copies of a domain found in protein kinases. The encoded protein has a complete protein kinase catalytic domain, and a truncated domain that contains only the active and binding sites of the protein kinase domain, however, it is not known whether the protein has any kinase activity. Multiple transcript variants encoding different isoforms have been found for this gene.
Mutations in COQ8B (ADCK4) found in patients with steroid-resistant nephrotic syndrome alter COQ8B function. Vazquez Fonseca L, Doimo M, Calderan C, Desbats MA, Acosta MJ, Cerqua C, Cassina M, Ashraf S, Hildebrandt F, Sartori G, Navas P, Trevisson E, Salviati L. Human mutation. 2018 March;39:406-414. (Human)[Full Text Article]
[PubMed:29194833]
[PMC:PMC5838795]
Related Antibodies: LS-C119206.
2
ADCK4 Deficiency Destabilizes the Coenzyme Q Complex, Which Is Rescued by 2,4-Dihydroxybenzoic Acid Treatment. Eugen Widmeier, Seyoung Yu, Anish Nag, Youn Wook Chung, Makiko Nakayama, Lucía Fernández-Del-Río, Hannah Hugo, David Schapiro, Florian Buerger, Won-Il Choi, Martin Helmstädter, Jae-Woo Kim, Ji-Hwan Ryu, Min Goo Lee, Catherine F Clarke, Friedhelm Hildebrandt, Heon Yung Gee. Journal of the American Society of Nephrology : JASN. 2020 June;31:1191-1211. [Full Text Article]
[PubMed:32381600]
[PMC:PMC7269352]
Related Antibodies: LS-C119206.
3
Identification of a common polymorphism in COQ8B acting as a modifier of thoracic aortic aneurysm severity. Benjamin J Landis, Dongbing Lai, Dong-Chuan Guo, Joel S Corvera, Muhammad T Idrees, Henry W Stadler, Christian Cuevas, Gavin U Needler, Courtney E Vujakovich, Dianna M Milewicz, Robert B Hinton, Stephanie M Ware. HGG advances. 2022 January;3: [Full Text Article]
[PubMed:34917985]
[PMC:PMC8670066]
Related Antibodies: LS-C119206.
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PLEASE NOTE
For RESEARCH USE ONLY. Intended for use by laboratory professionals. Not intended for human diagnostic or therapeutic purposes.
The data on this page has been compiled from LifeSpan internal sources, the National Center for Biotechnology Information (NCBI), and The Universal Protein Resource (UniProt).