ADCK3 Antibody – Mouse Monoclonal

This gene encodes a mitochondrial protein similar to yeast ABC1, which functions in an electron-transferring membrane protein complex in the respiratory chain. It is not related to the family of ABC transporter proteins. Expression of this gene is induced by the tumor suppressor p53 and in response to DNA damage, and inhibiting its expression partially suppresses p53-induced apoptosis. Alternatively spliced transcript variants have been found; however, their full-length nature has not been determined. [provided by RefSeq, Jul 2008]

Function: May be a chaperone-like protein essential for the proper conformation and functioning of protein complexes in the respiratory chain.

Subcellular location: Mitochondrion Ref.1.

Tissue specificity: Ubiquitously expressed with a relatively greater abundance in heart and skeletal muscle.

Induction: By p53/TP53.

Involvement in disease: Coenzyme Q10 deficiency, primary, 4 (COQ10D4) [MIM:612016]: 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.Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.10 Ref.11

Sequence similarities: Belongs to the protein kinase superfamily. ADCK protein kinase family.Contains 1 protein kinase domain.

Caution: It is not known if it has protein kinase activity and what type of substrate it would phosphorylate (Ser, Thr or Tyr).