Chromosome 18 (human)
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Chromosome 18 is one of the 23 pairs of
chromosome A chromosome is a package of DNA containing part or all of the genetic material of an organism. In most chromosomes, the very long thin DNA fibers are coated with nucleosome-forming packaging proteins; in eukaryotic cells, the most import ...
s in
human Humans (''Homo sapiens'') or modern humans are the most common and widespread species of primate, and the last surviving species of the genus ''Homo''. They are Hominidae, great apes characterized by their Prehistory of nakedness and clothing ...
s. People normally have two copies of this chromosome. Chromosome 18 spans about 80 million
base pair A base pair (bp) is a fundamental unit of double-stranded nucleic acids consisting of two nucleobases bound to each other by hydrogen bonds. They form the building blocks of the DNA double helix and contribute to the folded structure of both DNA ...
s (the building material of
DNA Deoxyribonucleic acid (; DNA) is a polymer composed of two polynucleotide chains that coil around each other to form a double helix. The polymer carries genetic instructions for the development, functioning, growth and reproduction of al ...
) and represents about 2.5 percent of the total DNA in cells.


Genes


Number of genes

The following are some of the gene count estimates of human chromosome 18. Because researchers use different approaches to genome annotation their predictions of the
number of genes In biology, the word gene has two meanings. The Mendelian gene is a basic unit of heredity. The molecular gene is a sequence of nucleotides in DNA that is transcribed to produce a functional RNA. There are two types of molecular genes: prote ...
on each chromosome varies (for technical details, see
gene prediction In computational biology, gene prediction or gene finding refers to the process of identifying the regions of genomic DNA that encode genes. This includes protein-coding genes as well as RNA genes, but may also include prediction of other functio ...
). Among various projects, the collaborative consensus coding sequence project ( CCDS) takes an extremely conservative strategy. So CCDS's gene number prediction represents a lower bound on the total number of human protein-coding genes.


Gene list

The following is a partial list of genes on human chromosome 18. For complete list, see the link in the infobox on the right.


Diseases and disorders

The following diseases are some of those related to genes on chromosome 18: *
Erythropoietic protoporphyria Erythropoietic protoporphyria (or commonly called EPP) is a form of porphyria, which varies in severity and can be very painful. It arises from a deficiency in the enzyme ferrochelatase, leading to abnormally high levels of protoporphyrin in the ...
*
Hereditary hemorrhagic telangiectasia Hereditary hemorrhagic telangiectasia (HHT), also known as Osler–Weber–Rendu disease and Osler–Weber–Rendu syndrome, is a rare autosomal dominant genetic disorder that leads to abnormal blood vessel formation in the Human skin, skin, muco ...
*
Niemann–Pick disease Niemann–Pick disease (NP), also known as acid sphingomyelinase deficiency, is a group of rare genetic diseases of varying severity. These are inherited metabolic disorders in which sphingomyelin accumulates in lysosomes in cells of many orga ...
type C *
Porphyria Porphyria ( or ) is a group of disorders in which substances called porphyrins build up in the body, adversely affecting the skin or nervous system. The types that affect the nervous system are also known as Porphyria#Acute porphyrias, acute p ...
*
Selective mutism Selective mutism (SM) is an anxiety disorder in which a person who is otherwise capable of speech becomes unable to speak when exposed to specific situations, specific places, or to specific people, one or multiple of which serve as triggers. Se ...
* Edwards syndrome (trisomy 18) *
Tetrasomy 18p Tetrasomy 18p is a genetic condition that is caused by the presence of an isochromosome composed of two copies of the short arm of chromosome 18 in addition to the two normal copies of the chromosome. It is characterized by multiple medical and d ...
* Monosomy 18p * Pitt–Hopkins syndrome 18q21 * Distal 18q- (distal deletion) * Proximal 18q- (proximal deletion)


Cytogenetic band


References

* * *


External links


Chromosome18.org

Chromosome18 Registry And Research Society in Europe.
* * {{DEFAULTSORT:Chromosome 18 (Human) Chromosomes (human) *