LP33140-2
RPS6KA3 gene
Active
Description
The RPS6KA3 gene (ribosomal protein S6 kinase, 90kDa, polypeptide 3) [HGNC Gene ID:10432] is located on chromosome Xp22.2-p22.1. This gene encodes a member of the RSK (ribosomal S6 kinase) family of serine/threonine kinases. This kinase contains 2 non-identical kinase catalytic domains and phosphorylates various substrates, including members of the mitogen-activated kinase (MAPK) signalling pathway. The activity of this protein has been implicated in controlling cell growth and differentiation. Mutations in this gene have been associated with Coffin-Lowry syndrome (CLS). [provided by RefSeq, Jul 2008] [NCBI Gene ID:6197] 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 Display Name
- RPS6KA3 gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2004-02-10
- Construct for LOINC Short Name
- RPS6KA3 gene
LOINC Terminology Service (API) using HL7® FHIR® Get Info
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- CodeSystem lookup
- https:
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Language Variants Get Info
Tag | Language | Translation |
---|---|---|
zh-CN | Chinese (China) | RPS6KA3 基因 Synonyms: HU-2; |
et-EE | Estonian (Estonia) | RPS6KA3 geen |
es-ES | Spanish (Spain) | Gen RPS6KA3 |
it-IT | Italian (Italy) | RPS6KA3, gene Synonyms: Gene RPS6KA3 |
tr-TR | Turkish (Turkey) | RPS6KA3 geni |
ru-RU | Russian (Russian Federation) | RPS6KA3 ген |
nl-NL | Dutch (Netherlands) | RPS6KA3-gen Synonyms: RPS6KA3 gen |
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