CDKL5 Antibody – Rabbit Polyclonal

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]

Function: Mediates phosphorylation of MECP2. Ref.7 Ref.8

Catalytic activity: ATP + a protein = ADP + a phosphoprotein.

Subunit structure: Interacts with MECP2. Ref.7

Subcellular location: Nucleus Ref.8.

Tissue specificity: Expressed in brain, lung, kidney, prostate, ovary, placenta, pancreas and testis.

Post-translational modification: Autophosphorylated. Ref.7 Ref.8

Involvement in disease: Chromosomal aberrations involving CDKL5 are found in patients manifesting early-onset seizures and spams and psychomotor impairment. Translocation t(X;6)(p22.3;q14); translocation t(X;7)(p22.3;p15).Epileptic encephalopathy, early infantile, 2 (EIEE2) [MIM:300672]: A severe form of epilepsy characterized by seizures or spasms beginning in infancy. Patients with epileptic encephalopathy early infantile type 2 manifest features resembling Rett syndrome such as microcephaly, lack of speech development, stereotypic hand movements. However, EIEE2 and Rett syndrome are considered two distinct entities.Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.2 Ref.6 Ref.7 Ref.8 Ref.13 Ref.14 Ref.15 Ref.16 Ref.19 Ref.20 Ref.21 Ref.22 Ref.23

Sequence similarities: Belongs to the protein kinase superfamily. CMGC Ser/Thr protein kinase family. CDC2/CDKX subfamily.Contains 1 protein kinase domain.

Caution: It is uncertain whether Met-1 or Met-10 is the initiator.

Sequence caution: The sequence CAA61445.1 differs from that shown. Reason: Frameshift at position 415.