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Concept
Chromosome 5
Summary
Chromosome 5 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 5 spans about 182 million base pairs (the building blocks of DNA) and represents almost 6% of the total DNA in cells. Chromosome 5 is the 5th largest human chromosome, yet has one of the lowest gene densities. This is partially explained by numerous gene-poor regions that display a remarkable degree of non-coding and syntenic conservation with non-mammalian vertebrates, suggesting they are functionally constrained.
Because chromosome 5 is responsible for many forms of growth and development (cell divisions) changes may cause cancers. One example would be acute myeloid leukemia (AML).
The following are some of the gene count estimates of human chromosome 5. Because researchers use different approaches to genome annotation their predictions of the number of genes on each chromosome varies (for technical details, see gene prediction). 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.
Genes on human chromosome 5
The following is a partial list of genes on human chromosome 5. For complete list, see the link in the infobox on the right.
The following are some of the diseases related to genes located on chromosome 5:
Achondrogenesis type 1B
Atelosteogenesis, type II
Bosch-Boonstra-Schaaf optic atrophy syndrome
Charcot–Marie–Tooth disease, type 4
Cockayne syndrome
Cornelia de Lange syndrome
Corneal dystrophy of Bowman layer
Cri du chat
Diastrophic dysplasia
Ehlers-Danlos syndrome
Familial adenomatous polyposis
Granular corneal dystrophy type I
Granular corneal dystrophy type II
GM2-gangliosidosis, AB variant
Homocystinuria
3-Methylcrotonyl-CoA carboxylase deficiency
Myelodysplastic syndrome
Netherton syndrome
Nicotine dependency
Parkinson's disease
Primary carnitine deficiency
Recessive multiple epiphyseal dysplasia
Sandhoff disease
Spinal muscular atrophy
Sotos Syndrome
Survival motor neuron spinal muscular atrophy
Treacher Collins syndrome
Tricho-hepato-enteric syndrome
Usher syndrome
The following conditions are caused by changes in the structure or number of copies of chromosome 5:
Cri-du-chat syndrome is caused by a deletion of the end of the short (p) arm of chromosome 5.
Official source
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