CABC1 Antibody – Rabbit Polyclonal

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]

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.

Protein type: Protein kinase, Ser/Thr (non-receptor); EC 2.7.11.-; Protein kinase, atypical; Kinase, protein; ATYPICAL group; ABC1 family; ABC1-A subfamily

Chromosomal Location of Human Ortholog: 1q42.13

Cellular Component: integral to membrane; mitochondrion

Molecular Function: ADP binding; ATP binding; kinase activity; protein binding

Biological Process: phosphorylation; ubiquinone biosynthetic process

Disease: Coenzyme Q10 Deficiency, Primary, 4