功能： catalytic activity:ATP + a protein = ADP + a phosphoprotein.,caution:It is uncertain whether Met-1 or Met-10 is the initiator.,disease:Chromosomal aberrations involving CDKL5 are a cause of X-linked infantile spasm syndrome (ISSX) [MIM:308350]; also known as X-linked West syndrome. Translocation t(X;6)(p22.3;q14); translocation t(X;7)(p22.3;p15). ISSX is characterized by infantile spasms, hypsarrhythmia on EEG, and developmental arrest leading to severe to profound mental retardation.,disease:Defects in CDKL5 are a cause of atypical CDKL5-related Rett syndrome [MIM:300672]. Rett syndrome is an X-linked dominant disease. It is a progressive neurologic developmental disorder and one of the most common causes of mental retardation in females. Patients appear to develop normally until 6 to 18 months of age, then gradually lose speech and purposeful hand movements and develop microcephaly, seizures, autism, ataxia, intermittent hyperventilation, and stereotypic hand movements. After initial regression, the condition stabilizes and patients usually survive into adulthood. Atypical, CDKL5-related Rett syndrome is characterized by a severe early-onset phenotype and atypical features such as infantile spasms.,disease:Defects in CDKL5 are a cause of X-linked infantile spasm syndrome (ISSX) [MIM:308350].,similarity:Belongs to the protein kinase superfamily. CMGC Ser/Thr protein kinase family. CDC2/CDKX subfamily.,similarity:Contains 1 protein kinase domain.,tissue specificity:Expressed in brain, lung, kidney, prostate, ovary, placenta, pancreas and testis.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Nucleus . Cytoplasm, cytoskeleton, cilium basal body . Cytoplasm, cytoskeleton, microtubule organizing center, centrosome .
组织表达： Expressed in brain, lung, kidney, prostate, ovary, placenta, pancreas and testis.; [Isoform 2]: Predominant transcript in brain.
功能： catalytic activity:ATP + a protein = ADP + a phosphoprotein.,caution:It is uncertain whether Met-1 or Met-10 is the initiator.,disease:Chromosomal aberrations involving CDKL5 are a cause of X-linked infantile spasm syndrome (ISSX) [MIM:308350]; also known as X-linked West syndrome. Translocation t(X;6)(p22.3;q14); translocation t(X;7)(p22.3;p15). ISSX is characterized by infantile spasms, hypsarrhythmia on EEG, and developmental arrest leading to severe to profound mental retardation.,disease:Defects in CDKL5 are a cause of atypical CDKL5-related Rett syndrome [MIM:300672]. Rett syndrome is an X-linked dominant disease. It is a progressive neurologic developmental disorder and one of the most common causes of mental retardation in females. Patients appear to develop normally until 6 to 18 months of age, then gradually lose speech and purposeful hand movements and develop microcephaly, seizures, autism, ataxia, intermittent hyperventilation, and stereotypic hand movements. After initial regression, the condition stabilizes and patients usually survive into adulthood. Atypical, CDKL5-related Rett syndrome is characterized by a severe early-onset phenotype and atypical features such as infantile spasms.,disease:Defects in CDKL5 are a cause of X-linked infantile spasm syndrome (ISSX) [MIM:308350].,similarity:Belongs to the protein kinase superfamily. CMGC Ser/Thr protein kinase family. CDC2/CDKX subfamily.,similarity:Contains 1 protein kinase domain.,tissue specificity:Expressed in brain, lung, kidney, prostate, ovary, placenta, pancreas and testis.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Nucleus . Cytoplasm, cytoskeleton, cilium basal body . Cytoplasm, cytoskeleton, microtubule organizing center, centrosome .
组织表达： Expressed in brain, lung, kidney, prostate, ovary, placenta, pancreas and testis.; [Isoform 2]: Predominant transcript in brain.
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