Table 1 Genes preconditioning syndromes of hamartomatous polyposis
Gene | BMPR1A | SMAD4 | PTEN | STK11 |
|---|---|---|---|---|
Name | Bone morphogenetic protein receptor, type Ia | Mothers against decapentaplegic, drosophila, homolog of, 4 | Phosphatase and tensin homologue | Serine/threonine protein kinase 11 |
Function of the protein | receptor | signalling protein | phosphatase | kinase |
MIM | *601299 | *600993 | *601728 | *602216 |
Chromosome | 10q22.3 | 18q21 | 10q23.31 | 19q13.3 |
Size | 168.5 kbp | 38.5 kbp | 108 kbp | 23 kbp |
Exons | 13 | 11 | 9 | 10 |
Amino acids | 532 | 552 | 403 | 433 |
Transcript (bp) | 3613 | 8365 | 9007 | 3276 |
Mass of protein | 60 kDa | 60 kDa | 47 kDa | 48.6 kDa |