STRADA Gene - GeneCards | STRAA Protein | STRAA Antibody
2024年12月25日 · STRADA (STE20 Related Adaptor Alpha) is a Protein Coding gene. Diseases associated with STRADA include Polyhydramnios, Megalencephaly, And Symptomatic …
STRADA gene information - The Human Protein Atlas
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) …
STRADA STE20 related adaptor alpha [Homo sapiens (human)] - Gene …
2022年8月6日 · A mutation in this gene has been shown to result in polyhydramnios, megalencephaly, and symptomatic epilepsy (PMSE) syndrome. Multiple transcript variants …
Novel Homozygous Deletion in STRADA Gene Associated With ... - PubMed
We report a novel STRADA gene deletion of exons 7-9 in 2 sisters from nonconsanguineous parents, as well as an improvement in seizure control in 1 sibling following treatment with …
STRADA STE20 related adaptor alpha - NIH Genetic Testing …
2024年12月10日 · Whole exome sequencing identifies the first STRADA point mutation in a patient with polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome (PMSE). …
STE20 相关适配器 alpha（STRADA）基因 | MCE - MCE-生物活性 ...
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 …
Electroclinical Features in Two Novel STRADA Patients and a
Loss of function of the STRADA gene, an upstream mTOR inhibitor, causes a rare neurodevelopmental disorder characterized by polyhydramnios, megalencephaly, and …
Novel Homozygous Deletion in STRADA Gene Associated With
We report a novel STRADA gene deletion of exons 7-9 in 2 sisters from nonconsanguineous parents, as well as an improvement in seizure control in 1 sibling following treatment with …
STRADA Gene - maayanlab.cloud
STRADA has 4,420 functional associations with biological entities spanning 8 categories (molecular profile, organism, functional term, phrase or reference, disease, phenotype or trait, …
STRADA人源基因|STRADA基因突变_致病性_靶点-RDDC官网
这个基因编码的蛋白质含有STE20样的激酶结构域，但缺少对催化活性至关重要的几个残基，因此被称为“伪激酶”。 该蛋白质与丝氨酸/苏氨酸激酶11（STK11，也称为LKB1）和支架蛋白钙结 …