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Rabbit Anti-CABC1/FITC Conjugated antibody
background:
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 properconformation and functioning of protein complexes in therespiratory chain.
Subcellular Location:
Mitochondrion.
Tissue Specificity:
Ubiquitously expressed with a relativelygreater abundance in heart and skeletal muscle.
DISEASE:
Defects in ADCK3 are the cause of coenzyme Q10deficiency, primary, type 4 (COQ10D4) [MIM:612016]. An autosomalrecessive disorder characterized by childhood-onset of cerebellarataxia and exercise intolerance. Patient manifest gait ataxia andcerebellar atrophy with slow progression. Additional featuresinclude brisk tendon reflexes and Hoffmann sign, variablepsychomotor retardation and variable seizures.
Similarity:
Belongs to the protein kinase superfamily. ADCKprotein kinase family.
Contains 1 protein kinase domain.
Database links:
Entrez Gene: 56997 Human
Entrez Gene: 67426 Mouse
Entrez Gene: 72887 Rat
Omim: 606196 Human
SwissProt: Q8NI60 Human
SwissProt: Q60936 Mouse
SwissProt: Q5BJQ0 Rat
Unigene: 118241 Human
Unigene: 38330 Mouse
Unigene: 160865 Rat
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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