Chromosome 19 is one of the 23 pairs of
chromosome
A chromosome is a long DNA molecule with part or all of the genetic material of an organism. In most chromosomes the very long thin DNA fibers are coated with packaging proteins; in eukaryotic cells the most important of these proteins are ...
s in
human
Humans (''Homo sapiens'') are the most abundant and widespread species of primate, characterized by bipedalism and exceptional cognitive skills due to a large and complex brain. This has enabled the development of advanced tools, cultu ...
s. People normally have two copies of this chromosome. Chromosome 19 spans more than 58.6 million
base pairs, the building material of
DNA. It is considered the most
gene
In biology, the word gene (from , ; "... Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation'' or ''birth'' or ''gender'') can have several different meanings. The Mendelian gene is a b ...
-rich chromosome containing roughly 1,500 genes, despite accounting for only 2 percent of the human genome.
Genes
Number of genes
The following are some of the gene count estimates of human chromosome 19. Because researchers use different approaches to
genome annotation, their predictions of the
number of genes
In biology, the word gene (from , ; "...Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation'' or ''birth'' or ''gender'') can have several different meanings. The Mendelian gene is a ba ...
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 functiona ...
). 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 19. For complete list, see the link in the infobox on the right.
Short arm
Long arm
Diseases and disorders
The following diseases are some of those related to genes on chromosome 19:
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Alternating hemiplegia of childhood
Alternating hemiplegia of childhood (AHC) is an ultra-rare neurological disorder named for the transient episodes, often referred to as "attacks", of hemiplegia (weakness or paralysis) from which those with the disorder suffer. It typically present ...
*
Alzheimer's disease
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CADASIL
CADASIL or CADASIL syndrome, involving cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy, is the most common form of hereditary stroke disorder, and is thought to be caused by mutations of the '' Notch 3'' g ...
*
Centronuclear myopathy
Centronuclear myopathies (CNM) are a group of congenital myopathies where cell nuclei are abnormally located in the center of muscle cells instead of their normal location at the periphery.
Symptoms of CNM include severe hypotonia, hypoxia-requi ...
autosomal dominant form
*
Charcot–Marie–Tooth disease
Charcot–Marie–Tooth disease (CMT) is a hereditary motor and sensory neuropathy of the peripheral nervous system characterized by progressive loss of muscle tissue and touch sensation across various parts of the body. This disease is the most ...
*
Congenital hearing loss
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Congenital hypothyroidism
Congenital hypothyroidism (CH) is thyroid hormone deficiency present at birth. If untreated for several months after birth, severe congenital hypothyroidism can lead to growth failure and permanent intellectual disability. Infants born with con ...
*
Donohue syndrome
Donohue syndrome (also known as leprechaunism) is an extremely rare and severe genetic disorder. ''Leprechaunism'' derives its name from the hallmark elvish features (small stature, bulging eyes, thick lips, and upturned nostrils) exhibited by the ...
*
Familial hemiplegic migraine
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Glutaric acidemia type 1
*
Hemochromatosis
*
HUPRA syndrome
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Leber congenital amaurosis
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Maple syrup urine disease
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Marfan syndrome
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Multiple epiphyseal dysplasia
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Myotonic dystrophy
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Myotubular myopathy autosomal dominant form
*
Oligodendroglioma
Oligodendrogliomas are a type of glioma that are believed to originate from the oligodendrocytes of the brain or from a glial precursor cell. They occur primarily in adults (9.4% of all primary brain and central nervous system tumors) but are also ...
*
Peutz–Jeghers syndrome
Peutz–Jeghers syndrome (often abbreviated PJS) is an autosomal dominant genetic disorder characterized by the development of benign hamartomatous polyps in the gastrointestinal tract and hyperpigmented macules on the lips and oral mucosa ( mela ...
*
Prolidase deficiency
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Pseudoachondroplasia
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Spinocerebellar ataxia type 6
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X-linked agammaglobulinemia or Bruton's disease
Cytogenetic band
References
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* Human Proteome Project Launch website~ https://web.archive.org/web/20110726163128/http://www.hupo.org/research/hpp/HPP_legrain_sep_2010.pdf
External links
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{{DEFAULTSORT:Chromosome 19 (Human)
Chromosomes (human)
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