RecName: Full=Atypical kinase COQ8A, mitochondrial; AltName: Full=Chap - Protein

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Mitochondrial dysfunction and calcium dysregulation in COQ8A-ataxia Purkinje neurons are rescued by CoQ10 treatment. [Brain. 2023]
Mitochondrial dysfunction and calcium dysregulation in COQ8A-ataxia Purkinje neurons are rescued by CoQ10 treatment.
Manolaras I, Del Bondio A, Griso O, Reutenauer L, Eisenmann A, Habermann BH, Puccio H. Brain. 2023 Sep 1; 146(9):3836-3850.
Photoparoxysmal response in ADCK3 autosomal recessive ataxia: a case report and literature review. [Epileptic Disord. 2021]
Photoparoxysmal response in ADCK3 autosomal recessive ataxia: a case report and literature review.
Uccella S, Pisciotta L, Severino M, Bertini E, Giacomini T, Zanni G, Prato G, De Grandis E, Nobili L, Mancardi MM. Epileptic Disord. 2021 Feb 1; 23(1):153-160.
Clinico-Genetic, Imaging and Molecular Delineation of COQ8A-Ataxia: A Multicenter Study of 59 Patients. [Ann Neurol. 2020]
Clinico-Genetic, Imaging and Molecular Delineation of COQ8A-Ataxia: A Multicenter Study of 59 Patients.
Traschütz A, Schirinzi T, Laugwitz L, Murray NH, Bingman CA, Reich S, Kern J, Heinzmann A, Vasco G, Bertini E, et al. Ann Neurol. 2020 Aug; 88(2):251-263. Epub 2020 Jun 10.

RefSeq genomic sequence
See the genomic reference sequence for the COQ8A gene (NG_012825.2).

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Q8NI60 [Domain Mapping of Disease Mut...]
Q8NI60
Domain Mapping of Disease Mutations
MODBASE, Database of Comparative Protein Structure Models (Sali Lab/UCSF) [MODBASE, Database of Comparat...]
MODBASE, Database of Comparative Protein Structure Models (Sali Lab/UCSF)
Transcript/Protein Information [PANTHER Classification System]
Transcript/Protein Information
PANTHER Classification System
Reactome [Reactome]
Reactome
reagents [ExactAntigen/Labome]
reagents
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reagent reviews
ExactAntigen/Labome

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Protein