其他名称： ADCK3; CABC1; PP265; Chaperone activity of bc1 complex-like; mitochondrial; Chaperone-ABC1-like; aarF domain-containing protein kinase 3
实测条带： 70kD
功能： disease:Defects in CABC1 are a cause of coenzyme Q10 deficiency [MIM:607426]; also known as primary CoQ10 deficiency. Coenzyme Q10 deficiency patients present a progressive neurological disorder with cerebellar atrophy, developmental delay, and hyperlactatemia.,disease:Defects in CABC1 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.,function:May be a chaperone-like protein essential for the proper conformation and functioning of protein complexes in the respiratory chain.,induction:By p53.,similarity:Belongs to the protein kinase superfamily. ADCK protein kinase family.,similarity:Contains 1 protein kinase domain.,tissue specificity:Ubiquitously expressed with a relatively greater abundance in heart and skeletal muscle.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Mitochondrion . Membrane ; Single-pass membrane protein .
组织表达： Widely expressed, with highest levels in adrenal gland, heart, pancreas, nasal mucosa, stomach, uterus and skeletal muscle.
科研货号： PLA014997
CABC1 Polyclonal Antibody
Catalog NoPLA014997
Product information
基因名称： ADCK3
蛋白名称： Chaperone activity of bc1 complex-like mitochondrial
其他名称： ADCK3; CABC1; PP265; Chaperone activity of bc1 complex-like; mitochondrial; Chaperone-ABC1-like; aarF domain-containing protein kinase 3
实测条带： 70kD
功能： disease:Defects in CABC1 are a cause of coenzyme Q10 deficiency [MIM:607426]; also known as primary CoQ10 deficiency. Coenzyme Q10 deficiency patients present a progressive neurological disorder with cerebellar atrophy, developmental delay, and hyperlactatemia.,disease:Defects in CABC1 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.,function:May be a chaperone-like protein essential for the proper conformation and functioning of protein complexes in the respiratory chain.,induction:By p53.,similarity:Belongs to the protein kinase superfamily. ADCK protein kinase family.,similarity:Contains 1 protein kinase domain.,tissue specificity:Ubiquitously expressed with a relatively greater abundance in heart and skeletal muscle.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Mitochondrion . Membrane ; Single-pass membrane protein .
组织表达： Widely expressed, with highest levels in adrenal gland, heart, pancreas, nasal mucosa, stomach, uterus and skeletal muscle.
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