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Synthetic peptide
- SPECIFICATION
- CITATIONS
- PROTOCOLS
- BACKGROUND
| Primary Accession | O76039 |
|---|---|
| Clone Names | 3031711 |
| Gene ID | 6792 |
|---|---|
| Other Names | Cyclin-dependent kinase-like 5, Serine/threonine-protein kinase 9, CDKL5, STK9 |
| Target/Specificity | The synthetic peptide sequence used to generate the antibody AP7244c was selected from the Center region of human STK9 . A 10 to 100 fold molar excess to antibody is recommended. Precise conditions should be optimized for a particular assay. |
| Format | The synthetic peptide was lyophilized with 100% acetonitrile and is supplied as a powder. Reconstitute with 0.1 ml deionized water for a final concentration of 1 mg/ml. |
| Storage | Maintain refrigerated at 2-8°C for up to 6 months. For long term storage store at -20°C. |
| Precautions | This product is for research use only. Not for use in diagnostic or therapeutic procedures. |
| Name | CDKL5 |
|---|---|
| Synonyms | STK9 |
| Function | Mediates phosphorylation of MECP2. |
| Cellular Location | Nucleus. |
| Tissue Location | Expressed in brain, lung, kidney, prostate, ovary, placenta, pancreas and testis |
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Background
Defects in STK9, a dual-specificity serine/threonine kinase, are a cause of atypical Rett syndrome. 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. Rett syndrome due to CDKL5-associated mutations is characterized by a severe early-onset phenotype and atypical features such as infantile spasms.
References
Kalscheuer, V.M., et al., Am. J. Hum. Genet. 72(6):1401-1411 (2003).Montini, E., et al., Genomics 51(3):427-433 (1998).
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