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, culture, ...
s. People normally have two copies of this chromosome. Chromosome 19 spans more than 58.6 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. 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 ba ...
-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
DNA annotation or genome annotation is the process of identifying the locations of genes and all of the coding regions in a genome and determining what those genes do. An annotation (irrespective of the context) is a note added by way of explanati ...
, 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 ...
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Alzheimer's disease
Alzheimer's disease (AD) is a neurodegeneration, neurodegenerative disease that usually starts slowly and progressively worsens. It is the cause of 60–70% of cases of dementia. The most common early symptom is difficulty in short-term me ...
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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 ...
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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
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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
Congenital hearing loss is a hearing loss present at birth. It can include hereditary hearing loss or hearing loss due to other factors present either in-utero (prenatal) or at the time of birth.
Genetic factors
Genetic factors are thought to ...
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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 cong ...
*
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
Familial hemiplegic migraine (FHM) is an autosomal dominant type of hemiplegic migraine that typically includes weakness of half the body which can last for hours, days, or weeks. It can be accompanied by other symptoms, such as ataxia, coma, ...
*
Glutaric acidemia type 1
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Hemochromatosis
Iron overload or hemochromatosis (also spelled ''haemochromatosis'' in British English) indicates increased total accumulation of iron in the body from any cause and resulting organ damage. The most important causes are hereditary haemochromatos ...
*
HUPRA syndrome
*
Leber congenital amaurosis
Leber congenital amaurosis (LCA) is a rare inherited eye disease that appears at birth or in the first few months of life.
It affects about 1 in 40,000 newborns. LCA was first described by Theodor Leber in the 19th century. It should not be co ...
*
Maple syrup urine disease
Maple syrup urine disease (MSUD) is an autosomal recessive metabolic disorder affecting branched-chain amino acids. It is one type of organic acidemia. The condition gets its name from the distinctive sweet odor of affected infants' urine and ear ...
*
Marfan syndrome
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Multiple epiphyseal dysplasia
Fairbank's disease or multiple epiphyseal dysplasia (MED) is a rare genetic disorder (dominant form: 1 in 10,000 births) that affects the growing ends of bones. Long bones normally elongate by expansion of cartilage in the growth plate (epiphysea ...
*
Myotonic dystrophy
Myotonic dystrophy (DM) is a type of muscular dystrophy, a group of genetic disorders that cause progressive muscle loss and weakness. In DM, muscles are often unable to relax after contraction. Other manifestations may include cataracts, intel ...
*
Myotubular myopathy autosomal dominant form
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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
Prolidase deficiency (PD) is an extremely uncommon autosomal recessive disorder associated with collagen metabolism that affects connective tissues and thus a diverse array of organ systems more broadly, though it is extremely inconsistent in it ...
*
Pseudoachondroplasia
Pseudoachondroplasia is an inherited disorder of bone growth. It is a genetic autosomal dominant disorder. It is generally not discovered until 2–3 years of age, since growth is normal at first. Pseudoachondroplasia is usually first detected ...
*
Spinocerebellar ataxia type 6
*
X-linked agammaglobulinemia
X-linked agammaglobulinemia (XLA) is a rare genetic disorder discovered in 1952 that affects the body's ability to fight infection. As the form of agammaglobulinemia that is X-linked, it is much more common in males. In people with XLA, the whit ...
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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