APC (adenomatosis polyposis coli) is a human gene that is classified as a tumor suppressor gene. Tumor suppressor genes prevent the uncontrolled growth of cells that may result in cancerous tumors. The protein made by the APC gene plays a critical role in several cellular processes that determine whether a cell may develop into a tumor. The APC protein helps control how often a cell divides, how it attaches to other cells within a tissue, or whether a cell moves within or away from a tissue. This protein also helps ensure that the chromosome number in cells produced through cell division is correct. The APC protein accomplishes these tasks mainly through association with other proteins, especially those that are involved in cell attachment and signaling. The activity of one protein in particular, beta-catenin, is controlled by the APC protein. Regulation of beta-catenin prevents genes that stimulate cell division from being turned on too often and prevents cell overgrowth. [[{{{diversity_link}}}|Diversity]] {{{diversity}}} Binomial name Homo sapiens Linnaeus, 1758 Trinomial name {{{trinomial}}} Type Species {{{type_species}}} Subspecies Homo sapiens idaltu (extinct) Homo sapiens sapiens [[Image:{{{range_map}}}|{{{range_map_width}}}|]] Synonyms {{{synonyms}}} Homo (genus). ... This stylistic schematic diagram shows a gene in relation to the double helix structure of DNA and to a chromosome (right). ... A tumor suppressor gene is a gene that reduces the probability that a cell in a multicellular organism will turn into a tumor cell. ...

The APC gene is located on the long (q) arm of chromosome 5 between positions 21 and 22, from base pair 112,118,468 to base pair 112,209,532. Chromosome 5 is one of the 23 pairs of chromosomes in humans. ... In molecular biology, two nucleotides on opposite complementary DNA or RNA strands that are connected via hydrogen bonds are called a base pair (often abbreviated bp). ...

Related conditions

Familial adenomatous polyposis (FAP) is caused by mutations in the APC gene. More than 800 mutations in the APC gene have been identified in families with classic and attenuated types of familial adenomatous polyposis. Most of these mutations cause the production of an APC protein that is abnormally short and nonfunctional. This short protein cannot suppress the cellular overgrowth that leads to the formation of polyps, which can become cancerous. The most common mutation in familial adenomatous polyposis is a deletion of five bases (the building blocks of DNA) in the APC gene. This mutation changes the sequence of amino acids (the building material of proteins) in the resulting APC protein beginning at position 1309. Familial adenomatous polyposis (FAP) is an inherited condition in which numerous polyps form mainly in the epithelium of the large intestine. ... This article has been identified as possibly containing errors. ...

Another mutation is carried by approximately 6 percent of people of Ashkenazi (eastern and central European) Jewish heritage. This mutation results in the substitution of the amino acid lysine for isoleucine at position 1307 in the APC protein (also written as I1307K or Ile1307Lys). This change was initially thought to be harmless, but has recently been shown to be associated with a 10 to 20 percent increased risk of colon cancer. Ashkenazi Jews, also known as Ashkenazic Jews or Ashkenazim (אַשְׁכֲּנָזִי אַשְׁכֲּנָזִים Standard Hebrew, Aškanazi,Aškanazim, Tiberian Hebrew, ʾAškănāzî, ʾAškănāzîm, pronounced sing. ... In chemistry, an amino acid is any molecule that contains both amino and carboxylic acid functional groups. ... Lysine is one of the 20 amino acids normally found in proteins. ... Isoleucine is one of the 20 natural amino acids, and is coded for in DNA. Its chemical composition is identical to that of leucine, but the arrangement of its atoms is slightly different, resulting in different properties. ... Diagram of the stomach, colon, and rectum Colorectal cancer includes cancerous growths in the colon, rectum and appendix. ...

References

• Cohen MM Jr (2003). Molecular dimensions of gastrointestinal tumors: some thoughts for digestion. Am J Med Genet A 122 (4): 303-14. PMID 14518068
• Fearnhead NS, Britton MP, Bodmer WF (2001). The ABC of APC. Hum Mol Genet 10 (7): 721-33. PMID 11257105
• Fodde R (2002). The APC gene in colorectal cancer. Eur J Cancer 38 (7): 867-71. PMID 11978510
• Goss KH, Groden J (2000). Biology of the adenomatous polyposis coli tumor suppressor. J Clin Oncol 18 (9): 1967-79. PMID 10784639
• Jarvinen HJ, Peltomaki P (2004). The complex genotype-phenotype relationship in familial adenomatous polyposis. Eur J Gastroenterol Hepatol 16 (1): 5-8. PMID 15095846
• Lal G, Gallinger S (2000). Familial adenomatous polyposis. Semin Surg Oncol 18 (4): 314-23. PMID 10805953
• van Es JH, Giles RH, Clevers HC (2001). The many faces of the tumor suppressor gene APC. Exp Cell Res 264 (1): 126-34. PMID 11237529

External links

• OMIM 175100
• EntrezGene 324
• GeneCard