| Modification Notes |
SPINK6 (serine peptidase inhibitor, Kazal type 6), also known as BUSI2, is an 80 amino acid secreted protein that contains one kazal-like domain and is thought to function as a serine protease inhibitor. The gene encoding SPINK6 maps to human chromosome 5, which contains 181 million base pairs and comprises nearly 6% of the human genome. Chromosome 5 is associated with Cockayne syndrome through the ERCC8 gene and familial adenomatous polyposis through the adenomatous polyposis coli (APC) tumor suppressor gene. Treacher Collins syndrome is also associated with chromosome 5 and is caused by insertions or deletions within the TCOF1 gene. Deletion of the p arm of chromosome 5 leads to Cri du chat syndrome, while deletion of the q arm or of chromosome 5 altogether is common in therapy-related acute mye-logenous leukemias and myelodysplastic syndrome. |