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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.
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| Protein type: EC 2.7.11.-; Protein kinase, Ser/Thr (non-receptor); Protein kinase, ATYPICAL; Kinase, protein; ATYPICAL group; ABC1 family; ABC1-A subfamily |
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Cellular Component: mitochondrion
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Molecular Function: protein serine/threonine kinase activity; ATP binding
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Biological Process: cell death
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Reference #:
Q8NI60 (UniProtKB)
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| 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 |
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Molecular weight: 71,950 Da
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Basal Isoelectric point: 6.51
Predict pI for various phosphorylation states
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