Chromosome 11 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. Humans normally have two copies of this chromosome. Chromosome 11 spans about 135 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 between 4 and 4.5 percent of the total DNA in
cells. The
shorter arm (p arm) is termed 11p while the longer arm (q arm) is 11q. At about 21.5
genes per megabase, chromosome 11 is one of the most gene-rich, and disease-rich, chromosomes in the
human genome
The human genome is a complete set of nucleic acid sequences for humans, encoded as the DNA within each of the 23 distinct chromosomes in the cell nucleus. A small DNA molecule is found within individual Mitochondrial DNA, mitochondria. These ar ...
.
More than 40% of the 856
olfactory receptor
Olfactory receptors (ORs), also known as odorant receptors, are chemoreceptors expressed in the cell membranes of olfactory receptor neurons and are responsible for the detection of odorants (for example, compounds that have an odor) which give ...
genes in the human genome are located in 28 single-gene and multi-gene clusters along the chromosome.
Gene
Number of genes
The following are some of the gene count estimates of human chromosome 11. 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 11. For complete list, see the links in the infobox on the right.
Diseases and disorders
The following diseases and disorders are some of those related to genes on chromosome 11:
*
autism
Autism, also known as autism spectrum disorder (ASD), is a neurodevelopmental disorder characterized by differences or difficulties in social communication and interaction, a preference for predictability and routine, sensory processing d ...
(
NRXN2)
*
acute intermittent porphyria
Acute intermittent porphyria (AIP) is a rare Metabolism, metabolic disorder affecting the production of heme resulting from a deficiency of the enzyme porphobilinogen deaminase. It is the most common of the acute porphyrias.
Signs and symptoms
Th ...
*
albinism
Albinism is the congenital absence of melanin in an animal or plant resulting in white hair, feathers, scales and skin and reddish pink or blue eyes. Individuals with the condition are referred to as albinos.
Varied use and interpretation of ...
*
ataxia–telangiectasia
Ataxia–telangiectasia (AT or A–T), also referred to as ataxia–telangiectasia syndrome or Louis–Bar syndrome, is a rare, neurodegenerative disease causing severe disability. Ataxia refers to poor coordination and telangiectasia to small dil ...
*
Beckwith–Wiedemann syndrome
*
Best's disease
*
beta-ketothiolase deficiency
*
beta thalassemia
Beta-thalassemia (β-thalassemia) is an genetic disorder, inherited hemoglobinopathy, blood disorder, a form of thalassemia resulting in variable outcomes ranging from clinically asymptomatic to severe anemia individuals. It is caused by reduce ...
*
bipolar disorder
Bipolar disorder (BD), previously known as manic depression, is a mental disorder characterized by periods of Depression (mood), depression and periods of abnormally elevated Mood (psychology), mood that each last from days to weeks, and in ...
*
bladder cancer
Bladder cancer is the abnormal growth of cells in the bladder. These cells can grow to form a tumor, which eventually spreads, damaging the bladder and other organs. Most people with bladder cancer are diagnosed after noticing blood in thei ...
*
breast cancer
Breast cancer is a cancer that develops from breast tissue. Signs of breast cancer may include a Breast lump, lump in the breast, a change in breast shape, dimpling of the skin, Milk-rejection sign, milk rejection, fluid coming from the nipp ...
*
carnitine palmitoyltransferase I deficiency
*
Charcot–Marie–Tooth disease
*
Cystic fibrosis
Cystic fibrosis (CF) is a genetic disorder inherited in an autosomal recessive manner that impairs the normal clearance of Sputum, mucus from the lungs, which facilitates the colonization and infection of the lungs by bacteria, notably ''Staphy ...
*
Depression
*
Denys–Drash syndrome
*
familial Mediterranean fever
*
Hereditary angioedema
*
Jacobsen syndrome
*
Jervell and Lange-Nielsen syndrome
*
Mantle cell lymphoma
Mantle cell lymphoma (MCL) is a type of Non-Hodgkin lymphoma, non-Hodgkin's lymphoma, comprising about 6% of cases. It is named for the mantle zone of the lymph nodes where it develops. The term 'mantle cell lymphoma' was first adopted by Raffe ...
(t11;14)
*
Meckel syndrome
*
methemoglobinemia
Methemoglobinemia, or methaemoglobinaemia, is a condition of elevated methemoglobin in the blood. Symptoms may include headache, dizziness, shortness of breath, nausea, poor muscle coordination, and blue-colored skin (cyanosis). Complications ma ...
, beta-globin type
*
Mixed lineage leukemia
*
multiple endocrine neoplasia type 1
*
Hereditary multiple exostoses
Hereditary multiple osteochondromas (HMO), also known as hereditary multiple exostoses, is a disorder characterized by the development of multiple benign osteocartilaginous masses (exostosis, exostoses) in relation to the ends of long bones of t ...
*
Nestor-Guillermo progeria syndrome
*
Niemann–Pick disease
*
nonsyndromic deafness
*
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 ...
*
Potocki–Shaffer syndrome
*
Romano–Ward syndrome
*
Sickle cell anemia
Sickle cell disease (SCD), also simply called sickle cell, is a group of inherited haemoglobin-related blood disorders. The most common type is known as sickle cell anemia. Sickle cell anemia results in an abnormality in the oxygen-carrying ...
*
Smith–Lemli–Opitz syndrome
Smith–Lemli–Opitz syndrome is an inborn error of metabolism, inborn error of cholesterol synthesis. It is an autosome, autosomal recessive (genetics), recessive, multiple malformation syndrome caused by a mutation in the enzyme 7-Dehydrochole ...
*
tetrahydrobiopterin deficiency
*
Usher syndrome
*
WAGR syndrome
WAGR syndrome (also known as WAGR complex, Wilms tumour-aniridia syndrome, aniridia-Wilms tumour syndrome) is a rare genetic syndrome in which affected children are predisposed to develop Wilms' tumour (a tumour of the kidneys), aniridia (absence ...
*
Wiedemann–Steiner syndrome
*
Wilms' tumor
Wilms' tumor or Wilms tumor, also known as nephroblastoma, is a cancer of the kidneys that typically occurs in children (rarely in adults), and occurs most commonly as a renal tumor in child patients. It is named after Max Wilms, the German sur ...
*
Mosaic variegated aneuploidy syndrome
Cytogenetic band
References
*
External links
*
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{{Chromosome genetics
Chromosome 11
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