STRADA Chromosome 17
STE20 related adaptor alpha
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What This Gene Does
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 (6)
Polyhydramnios
megalencephaly
and symptomatic epilepsy
Inborn genetic diseases
STRADA-related disorder
Self-limited epilepsy with centrotemporal spikes
Key Variants
RS202183893
Conflicting classifications of pathogenicity
Polyhydramnios, megalencephaly, and symptomatic epilepsy
Health Risk
RS372229032
Conflicting classifications of pathogenicity
Polyhydramnios, megalencephaly, and symptomatic epilepsy
Health Risk
RS375396155
Conflicting classifications of pathogenicity
Polyhydramnios, megalencephaly, and symptomatic epilepsy
Health Risk
RS376896311
Conflicting classifications of pathogenicity
Polyhydramnios, megalencephaly, and symptomatic epilepsy
Health Risk
RS539671529
Conflicting classifications of pathogenicity
Polyhydramnios, megalencephaly, and symptomatic epilepsy
Health Risk
RS56163554
Conflicting classifications of pathogenicity
Polyhydramnios, megalencephaly, and symptomatic epilepsy
Health Risk
RS1185962534
Likely pathogenic
Polyhydramnios, megalencephaly, and symptomatic epilepsy
Health Risk
RS1230074670
Likely pathogenic
Polyhydramnios, megalencephaly, and symptomatic epilepsy
Health Risk
RS1598144913
Likely pathogenic
Polyhydramnios, megalencephaly, and symptomatic epilepsy
Health Risk
RS2511101927
Likely pathogenic
Polyhydramnios, megalencephaly, and symptomatic epilepsy
Health Risk
RS1268277078
Pathogenic
Polyhydramnios, megalencephaly, and symptomatic epilepsy
Health Risk
RS1387899682
Pathogenic
Polyhydramnios, megalencephaly, and symptomatic epilepsy
Health Risk
All Variants (23)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS202183893 | Health Risk | Conflicting classifications of pathogenicity | Polyhydramnios, megalencephaly, and symptomatic epilepsy |
| RS372229032 | Health Risk | Conflicting classifications of pathogenicity | Polyhydramnios, megalencephaly, and symptomatic epilepsy |
| RS375396155 | Health Risk | Conflicting classifications of pathogenicity | Polyhydramnios, megalencephaly, and symptomatic epilepsy |
| RS376896311 | Health Risk | Conflicting classifications of pathogenicity | Polyhydramnios, megalencephaly, and symptomatic epilepsy |
| RS539671529 | Health Risk | Conflicting classifications of pathogenicity | Polyhydramnios, megalencephaly, and symptomatic epilepsy |
| RS56163554 | Health Risk | Conflicting classifications of pathogenicity | Polyhydramnios, megalencephaly, and symptomatic epilepsy |
| RS1185962534 | Health Risk | Likely pathogenic | Polyhydramnios, megalencephaly, and symptomatic epilepsy |
| RS1230074670 | Health Risk | Likely pathogenic | Polyhydramnios, megalencephaly, and symptomatic epilepsy |
| RS1598144913 | Health Risk | Likely pathogenic | Polyhydramnios, megalencephaly, and symptomatic epilepsy |
| RS2511101927 | Health Risk | Likely pathogenic | Polyhydramnios, megalencephaly, and symptomatic epilepsy |
| RS1268277078 | Health Risk | Pathogenic | Polyhydramnios, megalencephaly, and symptomatic epilepsy |
| RS1387899682 | Health Risk | Pathogenic | Polyhydramnios, megalencephaly, and symptomatic epilepsy |
| RS1555699052 | Health Risk | Pathogenic | Self-limited epilepsy with centrotemporal spikes, Self-limited epilepsy with centrotemporal spikes |
| RS2143849443 | Health Risk | Pathogenic | Polyhydramnios, megalencephaly, and symptomatic epilepsy |
| RS2511074603 | Health Risk | Pathogenic | Polyhydramnios, megalencephaly, and symptomatic epilepsy |
| RS2511132510 | Health Risk | Pathogenic | Polyhydramnios, megalencephaly, and symptomatic epilepsy |
| RS2511197105 | Health Risk | Pathogenic | Polyhydramnios, megalencephaly, and symptomatic epilepsy |
| RS35598314 | Health Risk | Pathogenic | Polyhydramnios, megalencephaly, and symptomatic epilepsy |
| RS55695051 | Health Risk | Pathogenic | Self-limited epilepsy with centrotemporal spikes, Self-limited epilepsy with centrotemporal spikes |
| RS748855607 | Health Risk | Pathogenic | Polyhydramnios, megalencephaly, and symptomatic epilepsy |
| RS761309470 | Health Risk | Pathogenic | Polyhydramnios, megalencephaly, and symptomatic epilepsy |
| RS767297496 | Health Risk | Pathogenic | Polyhydramnios, megalencephaly, and symptomatic epilepsy |
| RS886037929 | Health Risk | Pathogenic | Polyhydramnios, megalencephaly, and symptomatic epilepsy |