功能： disease:Defects in COQ2 are a cause of coenzyme Q10 deficiency [MIM:607426]. Coenzyme Q10 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.,function:Catalyzes the prenylation of para-hydroxybenzoate (PHB) with an all-trans polyprenyl group. Mediates the second step in the final reaction sequence of coenzyme Q (CoQ) biosynthesis, which is the condensation of the polyisoprenoid side chain with PHB.,pathway:Cofactor biosynthesis; ubiquinone biosynthesis.,similarity:Belongs to the ubiA prenyltransferase family.,tissue specificity:Widely expressed. Present in all of the tissues tested. Expressed at higher level in skeletal muscle, adrenal glands and the heart.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Mitochondrion inner membrane ; Multi-pass membrane protein ; Matrix side .
组织表达： Widely expressed. Present in all of the tissues tested. Expressed at higher level in skeletal muscle, adrenal glands and the heart.
功能： disease:Defects in COQ2 are a cause of coenzyme Q10 deficiency [MIM:607426]. Coenzyme Q10 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.,function:Catalyzes the prenylation of para-hydroxybenzoate (PHB) with an all-trans polyprenyl group. Mediates the second step in the final reaction sequence of coenzyme Q (CoQ) biosynthesis, which is the condensation of the polyisoprenoid side chain with PHB.,pathway:Cofactor biosynthesis; ubiquinone biosynthesis.,similarity:Belongs to the ubiA prenyltransferase family.,tissue specificity:Widely expressed. Present in all of the tissues tested. Expressed at higher level in skeletal muscle, adrenal glands and the heart.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Mitochondrion inner membrane ; Multi-pass membrane protein ; Matrix side .
组织表达： Widely expressed. Present in all of the tissues tested. Expressed at higher level in skeletal muscle, adrenal glands and the heart.
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