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LYK5: Difference between revisions
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The human gene encoding the | The human gene encoding the LYK<sub>5</sub> protein, also known as STRAD (STE20-like pseudokinase, STE20-like related adapter protein). The STRAD protein has a STE20-like kinase domain, but has altered amino acid residues responsible for catalytic activity, hence being classified as pseudokinase. It is known that STRAD forms in vivo a triple complex with LKB1 kinase and MO25 protein, and is essential for the proper functioning of LKB1 in the cell<ref>[https://pl.wikipedia.org/wiki/LYK5 Wikipedia(pl)KYK5]</ref> | ||
Mutations in the LYK5/STRADα gene are associated with [[polyhydramnios]], [[megalencephaly]] and symptomatic [[epilepsy]].<ref>https://academic.oup.com/brain/article-lookup/doi/10.1093/brain/awm100</ref> | Mutations in the LYK5/STRADα gene are associated with [[polyhydramnios]], [[megalencephaly]] and symptomatic [[epilepsy]].<ref>[https://academic.oup.com/brain/article-lookup/doi/10.1093/brain/awm100 Polyhydramnios, megalencephaly and symptomatic epilepsy caused by a homozygous 7-kilobase deletion in LYK5] </ref> | ||
{{Wikidata|Q18048623}} | {{Wikidata|Q18048623}} | ||
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Latest revision as of 14:59, 5 July 2019
The human gene encoding the LYK5 protein, also known as STRAD (STE20-like pseudokinase, STE20-like related adapter protein). The STRAD protein has a STE20-like kinase domain, but has altered amino acid residues responsible for catalytic activity, hence being classified as pseudokinase. It is known that STRAD forms in vivo a triple complex with LKB1 kinase and MO25 protein, and is essential for the proper functioning of LKB1 in the cell[1]
Mutations in the LYK5/STRADα gene are associated with polyhydramnios, megalencephaly and symptomatic epilepsy.[2]
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