Entrez gene ID | | 6792 |
Official gene symbol | | CDKL5 |
Full name | | cyclin-dependent kinase-like 5 |
Aliases | | ,ISSX,STK9, |
Gene summary | | 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] |
Location | | Chromosome: X Locus: Xp22 |
Gene position | | 18443725 - 18671749 Map Viewer |
Gene orientation | | plus |
Gene size | | 228025 bp |
Gene sequence |
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OMIM ID | | 300203 |
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