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: Protein kinase, Ser/Thr (non-receptor); EC 2.7.11.-; Protein kinase, atypical; Kinase, protein; ATYPICAL group; ABC1 family; ABC1-A subfamily
LTP: The number of records in which this modification site was determined using site-specific methods. SS methods include amino acid sequencing, site-directed mutagenesis, modification site-specific antibodies, specific MS strategies, etc.