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]

CDKL5: a protein kinase of the CDKL family. Mutations 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.

Protein type: Protein kinase, CMGC; Cell cycle regulation; EC 2.7.11.22; Protein kinase, Ser/Thr (non-receptor); Kinase, protein; CMGC group; CDKL family

Chromosomal Location of Human Ortholog: Xp22

Cellular Component: nucleoplasm; dendrite cytoplasm; cytoplasm; nucleus

Molecular Function: protein serine/threonine kinase activity; cyclin-dependent protein kinase activity; Rac GTPase binding; kinase activity; ATP binding; protein kinase activity

Biological Process: regulation of cell cycle; protein amino acid autophosphorylation; positive regulation of axon extension; neuron migration; regulation of dendrite development; positive regulation of dendrite morphogenesis; protein amino acid phosphorylation

Disease: Angelman Syndrome; Epileptic Encephalopathy, Early Infantile, 2