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ADCK3 May be a chaperone-like protein essential for the proper conformation and functioning of protein complexes in the respiratory chain. Defects in ADCK3 are the cause of coenzyme Q10 deficiency, primary, type 4 (COQ10D4). An autosomal recessive disorder characterized by childhood-onset of cerebellar ataxia and exercise intolerance. Patient manifest gait ataxia and cerebellar atrophy with slow progression. Additional features include brisk tendon reflexes and Hoffmann sign, variable psychomotor retardation and variable seizures. Belongs to the protein kinase superfamily. ADCK protein kinase family. 4 isoforms of the human protein are produced by alternative splicing. Note: This description may include information from UniProtKB.
Protein type: ABC1 family; ABC1-A subfamily; ATYPICAL group; EC 2.7.11.-; Kinase, protein; Protein kinase, Ser/Thr (non-receptor); Protein kinase, atypical
Chromosomal Location of Human Ortholog: 1q42.13
Cellular Component: integral component of membrane; mitochondrion
Molecular Function: ADP binding; ATP binding; kinase activity; protein binding; protein kinase activity
Biological Process: phosphorylation; protein amino acid phosphorylation; ubiquinone biosynthetic process
Disease: Coenzyme Q10 Deficiency, Primary, 4
Reference #:  Q8NI60 (UniProtKB)
Alt. Names/Synonyms: aarF domain-containing protein kinase 3; ADCK3; ARCA2; CABC1; Chaperone activity of bc1 complex-like, mitochondrial; chaperone, ABC1 activity of bc1 complex homolog (S. pombe); chaperone, ABC1 activity of bc1 complex like; Chaperone-ABC1-like; coenzyme Q8 homolog; COQ8; MGC4849; SCAR9
Gene Symbols: ADCK3
Molecular weight: 71,950 Da
Basal Isoelectric point: 6.51  Predict pI for various phosphorylation states
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