CDKL5; EIEE2; ISSX

For Research Use Only. Not for use in diagnostic procedures.

Chromosome: X; NC_000023.10 (18443725..18671749). Location: Xp22

Sf9 insect cells

>85%

Recombinant protein stored in 50mM Tris-HCl, pH 7.5, 50mM NaCl, 10mM glutathione, 0.1mM EDTA, 0.25mM DTT, 0.1mM PMSF, 25% glycerol.

0.1 ug/ uL (lot specific)

Store product at -70°C. For optimal storage, aliquot target into smaller quantities after centrifugation and store at recommended temperature. For most favorable performance, avoid repeated handling and multiple freeze/thaw cycles. Ships with Dry Ice.

Small volumes of STK9 recombinant protein vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.

Recombinant human STK9 (CDKL5) (1-498) was expressed by baculovirus in Sf9 insect cells using an N-terminal GST tag.

Scientific Background: STK9 or CDKL5 is a member of Ser/Thr protein kinase family which has protein kinase activity and is associated with X-linked infantile spasm syndrome (ISSX), also known as X-linked West syndrome, and Rett syndrome (RTT). STK9 can control nuclear speckle morphology by regulating the phosphorylation state of splicing regulatory proteins, and may be involved indirectly in pre-mRNA processing, by controlling splicing factor dynamics (1). The mutations in the STK9 is a major cause of infantile spasms and early epileptic seizures in female patients, and of a later intractable seizure disorder (2).

Cellular Proteins; Signaling Proteins - Cellular Proteins

Western Blot (WB)

The purity of STK9 was determined to be >85% by densitometry, approx MW 84 kDa.

~84 kDa

cyclin-dependent kinase-like 5

cyclin-dependent kinase-like 5; serine/threonine kinase 9; serine/threonine-protein kinase 9; cyclin dependent kinase 5 transcript

Cyclin-dependent kinase-like 5

STK9??[Similar Products]

CDKL5_HUMAN

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.

1. Ricciardi, S. et.al: CDKL5 influences RNA splicing activity by its association to the nuclear speckle molecular machinery. Hum. Molec. Genet. 18: 4590-4602, 2009.
2. Archer, H. L. et.al: CDKL5 mutations cause infantile spasms, early onset seizures, and severe mental retardation in female patients. J. Med. Genet. 43: 729-734, 2006.

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