Product Name: CABC1 Polyclonal Antibody, Cy5.5 Conjugated
Applications: IF(IHC-P)
Reactivity: Human, Mouse, Rat
Conjugation: Cy5.5
Host: Rabbit
Sourcr: KLH conjugated synthetic peptide derived from human ADCK3/CABC1
Clonality: Polyclonal
CAS NO: 1354825-58-3
Product: EW-7197
Isotype: IgG
Concentration: 1ug/ul
Purification: Purified by Protein A.
Storage: Aqueous buffered solution containing 1% BSA, 50% glycerol and 0.09% sodium azide. Store at 4°C for 12 months.
Synonyms: mitochondrial; aarF domain containing protein kinase 3; aarF domain-containing protein kinase 3; ADCK 3; ADCK3; ADCK3_HUMAN; CABC 1; Chaperone ABC1 activity of bc1 complex S.pombe like; Chaperone ABC1 activity of bc1 complex homolog; Chaperone ABC1 like; Chaperone activity of bc1 complex like; Chaperone activity of bc1 complex like mitochondrial; Chaperone activity of bc1 complex-like; Chaperone-ABC1-like; Coenzyme Q8 homolog; COQ 8; COQ8.
Background: May be a chaperone-like protein essential for the proper conformation and functioning of protein complexes in the respiratory chain.Tissue specificity:Ubiquitously expressed with a relatively greater abundance in heart and skeletal muscle.Involvement in disease:Defects in ADCK3 are a cause of coenzyme Q10 deficiency (CoQ10 deficiency). CoQ10 deficiency is an autosomal recessive disorder with variable manifestations. It can be associated with three main clinical phenotypes: a predominantly myopathic form with central nervous system involvement, an infantile encephalomyopathy with renal dysfunction and an ataxic form with cerebellar atrophy.Defects in ADCK3 are the cause of spinocerebellar ataxia autosomal recessive type 9 (SCAR9) [MIM:612016]; also known as autosomal recessive cerebellar ataxia type 2 (ARCA2). Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR9 is an autosomal recessive form characterized by gait ataxia and cerebellar atrophy with slow progression and few associated features. Patients can manifest brisk tendon reflexes and Hoffmann sign, mild psychomotor retardation, mild axonal degeneration of the sural nerve, exercise intolerance and elevated serum lactate.
PubMed ID:http://jpet.aspetjournals.org/content/288/3/1317
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