产品名称
CDKL5 Rabbit Polyclonal Antibody
蛋白名称
Cyclin-dependent kinase-like 5 (EC 2.7.11.22) (Serine/threonine-protein kinase 9)
存储缓冲液
Liquid in PBS containing 50% glycerol, and 0.02% New type preservative N.
Human Swissprot No.
O76039
Human Swissprot Link
https://www.uniprot.org/uniprotkb/O76039/entry
Mouse Swissprot No.
Q3UTQ8
Mouse Swissprot Link
http://www.uniprot.org/uniprot/Q3UTQ8
免疫原
Synthesized peptide derived from human protein . at AA range: 30-110
特异性
CDKL5 Polyclonal Antibody detects endogenous levels of protein.
稀释度
WB 1:500-2000 ELISA 1:5000-20000
宿主
Polyclonal, Rabbit,IgG
背景介绍
This gene is a member of Ser/Thr protein kinase family and encodes a phosphorylated protein with protein kinase activity. Mutations in this gene have been associated with X-linked infantile spasm syndrome (ISSX), also known as X-linked West syndrome, and Rett syndrome (RTT). Alternate transcriptional splice variants have been characterized. [provided by RefSeq, Jul 2008],
组织表达
Expressed in brain, lung, kidney, prostate, ovary, placenta, pancreas and testis.; [Isoform 2]: Predominant transcript in brain.
细胞定位
Nucleus . Cytoplasm, cytoskeleton, cilium basal body . Cytoplasm, cytoskeleton, microtubule organizing center, centrosome .
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.,
纯化
The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
