STRADA STE20 related adaptor alpha
Gene ID: 92335, updated on 2-Nov-2024Gene type: protein coding
Also known as: LYK5; PMSE; Stlk; STRAD; NY-BR-96; STRAD alpha
- See all available tests in GTR for this gene
- Go to complete Gene record for STRADA
- Go to Variation Viewer for STRADA variants
Summary
The protein encoded by this gene contains a STE20-like kinase domain, but lacks several residues that are critical for catalytic activity, so it is termed a 'pseudokinase'. The protein forms a heterotrimeric complex with serine/threonine kinase 11 (STK11, also known as LKB1) and the scaffolding protein calcium binding protein 39 (CAB39, also known as MO25). The protein activates STK11 leading to the phosphorylation of both proteins and excluding STK11 from the nucleus. The protein is necessary for STK11-induced G1 cell cycle arrest. A mutation in this gene has been shown to result in polyhydramnios, megalencephaly, and symptomatic epilepsy (PMSE) syndrome. Multiple transcript variants encoding different isoforms have been found for this gene. Additional transcript variants have been described but their full-length nature is not known. [provided by RefSeq, Sep 2009]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Many sequence variants affecting diversity of adult human height. GeneReviews: Not available | |
| Polyhydramnios, megalencephaly, and symptomatic epilepsy | See labs |
Genomic context
- Location:
- 17q23.3
- Sequence:
- Chromosome: 17; NC_000017.11 (63702832..63741986, complement)
- Total number of exons:
- 13
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for STRADA variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- STRADA database
- Variation ViewerRelated Variants
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