Seizure Related 6 Like Protein (SEZ6L)

The deleted region contained the SEZ6L (seizure 6-like) gene, whose structure had been partially determined by the chromosome 22 sequencing project . The SEZ6L cDNA contains a 3,072-bp open reading frame encoding a 1,024-amino acid transmembrane protein with multiple domains involved in protein-protein interaction and signal transduction. SEZ6L gene consists of 17 exons within a 210-kb region.

SEZ6L expression was detected in a variety of human tissues, including lung, while its expression was detected in 14 (30%) of 46 lung cancer cell lines examined. Missense mutations were detected in 3 (7%) of 46 cell lines, and a 1-bp deletion in the polypyrimidine tract preceding exon 4 was detected in 1 (2%) of 46 primary lung cancers.