Chromosome 18 (human)

Chromosome 18 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 18 spans about 76 million base pairs (the building material of DNA) and represents about 2.5 percent of the total DNA in cells.

Identifying genes on each chromosome is an active area of genetic research. Because researchers use different approaches to predict the number of genes on each chromosome, the estimated number of genes varies. Chromosome 18 likely contains between 300 and 400 genes.

Genes

The following are some of the genes located on chromosome 18:

• FECH: ferrochelatase (protoporphyria)
• NPC1: Niemann-Pick disease, type C1
• SMAD4: SMAD, mothers against DPP homolog 4 (Drosophila)

Diseases & disorders

The following diseases are some of those related to genes on chromosome 18:

• erythropoietic protoporphyria
• hereditary hemorrhagic telangiectasia
• Niemann-Pick disease
• porphyria
• Selective Mutism
• edwards syndrome
• Tetrasomy 18p

References

• Nusbaum C, Zody MC, Borowsky ML, Kamal M, Kodira CD, Taylor TD, Whittaker CA, Chang JL, Cuomo CA, Dewar K, FitzGerald MG, Yang X, Abouelleil A, Allen NR, Anderson S, Bloom T, Bugalter B, Butler J, Cook A, DeCaprio D, Engels R, Garber M, Gnirke A, Hafez N, Hall JL, Norman CH, Itoh T, Jaffe DB, Kuroki Y, Lehoczky J, Lui A, Macdonald P, Mauceli E, Mikkelsen TS, Naylor JW, Nicol R, Nguyen C, Noguchi H, O'Leary SB, O'Neill K, Piqani B, Smith CL, Talamas JA, Topham K, Totoki Y, Toyoda A, Wain HM, Young SK, Zeng Q, Zimmer AR, Fujiyama A, Hattori M, Birren BW, Sakaki Y, Lander ES (2005). "DNA sequence and analysis of human chromosome 18". Nature 437 (7058): 551-5. PMID 16177791.
• Chen H, Wang N, Huo Y, Sklar P, MacKinnon DF, Potash JB, McMahon FJ, Antonarakis SE, DePaulo JR Jr, Ross CA, McInnis MG (2003). "Trapping and sequence analysis of 1138 putative exons from human chromosome 18". Mol Psychiatry 8 (6): 619-23. PMID 12851638.
• Gilbert F (1997). "Disease genes and chromosomes: disease maps of the human genome. Chromosome 18". Genet Test 1 (1): 69-71. PMID 10464628.

it:Cromosoma 18 (umano)