Stk11- gene
Synonym(s)
DefinitionThis section has been translated automatically.
STK11 (acronym for "serine/threonine kinase 11", also known as LKB1 "liver kinase B1") is a protein-coding gene located on chromosome 19p13.3. The gene encodes the STK11 protein kinase.
The STK11 gene is organized over 23 kb of genomic DNA, and is composed of 9 coding and 1 non-coding exons. A distinctive feature of the STK11 gene is the splice donor and splice acceptor sequences of intron 2.
General informationThis section has been translated automatically.
The mutation spectrum in the STK11 gene is broad and ranges from point mutations, mutations of the splice donor and splice acceptor sequences, short deletions and insertions to complex chromosomal rearrangements. With few exceptions, the mutations are located in the STK11 kinase domain and lead to an enzymatically inactive protein kinase.
Mutations are particularly frequent in exons 1, 2, 3, 4, and 7, with new mutations occurring in about 30% of all cases.
The STK11 gene codes for a serine-threonine kinase consisting of 433 amino acids which is involved in PAR1A kinase/ß-catenin signal transduction.
LOH (loss of heterozygosity) of the chromosomal region where the STK11 gene is located has been detected in 70% of all hamartomatous polyps and adenocarcinomas of Peutz-Jeghers syndrome.