LP63487-0
CDKL5 gene
Active
Description
The CDKL5 gene (cyclin-dependent kinase-like 5) [HGNC Gene ID:11411] is located on chromosome Xp22. 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] [NCBI Gene ID:6792] Source: National Center for Biotechnology Information (NCBI) Gene
Reference Information
| Type | Source | Reference |
|---|---|---|
| Webcontent | Online Mendelian Inheritance in Man®Copyright OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University. | Link to OMIM |
Basic Part Properties
- Part Name
- CDKL5 gene
- Part Display Name
- CDKL5 gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2007-04-19
- Construct for LOINC Short Name
- CDKL5 gene
LOINC Terminology Service (API) using HL7® FHIR® Get Info
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | CDKL5 基因 Synonyms: STK9; |
| et-EE | Estonian (Estonia) | CDKL5 geen |
| es-ES | Spanish (Spain) | Gen CDKL5 |
| it-IT | Italian (Italy) | CDKL5, gene Synonyms: Gene CDKL5 |
| tr-TR | Turkish (Turkey) | CDKL5 geni |
| ru-RU | Russian (Russian Federation) | CDKL5 ген |
| nl-NL | Dutch (Netherlands) | CDKL5-gen Synonyms: CDKL5 gen |
| fr-FR | French (France) | CDKL5 gène |
| pl-PL | Polish (Poland) | CDKL5 gen Synonyms: Gen CDKL5 |
| el-GR | Greek (Greece) | Γονίδιο CDKL5 Synonyms: Γονίδιο CDKL5 |
LOINC Copyright
Copyright © Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright © Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee. See https://