Chromosome 11 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. Humans normally have two copies of this chromosome. Chromosome 11 spans about 135 million
base pairs (the building material of
DNA) 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 DNA within the 23 chromosome pairs in cell nuclei and in a small DNA molecule found within individual mitochondria. These are usually treated separately as the ...
.
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 r ...
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
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 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 (
NRXN2
Neurexin-2-alpha is a protein that in humans is encoded by the ''NRXN2'' gene.
Neurexins are a family of proteins that function in the vertebrate nervous system as cell adhesion molecules and receptors. They are encoded by several unlinked genes ...
)
*
acute intermittent porphyria
Acute intermittent porphyria (AIP) is a rare 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
The clinical ...
*
albinism
Albinism is the congenital absence of melanin in an animal or plant resulting in white hair, feathers, scales and skin and pink or blue eyes. Individuals with the condition are referred to as albino.
Varied use and interpretation of the term ...
* ataxia–telangiectasia
* Beckwith–Wiedemann syndrome
* Best's disease
* beta-ketothiolase deficiency
* beta thalassemia
* bladder cancer
* breast cancer
* carnitine palmitoyltransferase I deficiency
* Charcot–Marie–Tooth disease
* Cystic fibrosis
* Depression (mood), Depression
* Denys–Drash syndrome
* familial Mediterranean fever
* Hereditary angioedema
* Jacobsen syndrome
* Jervell and Lange-Nielsen syndrome
* Mantle cell lymphoma (t11;14)
* Meckel syndrome
* methemoglobinemia, beta-globin type
* Mixed lineage leukemia
* multiple endocrine neoplasia type 1
* Hereditary multiple exostoses
* Nestor-Guillermo progeria syndrome
* Niemann–Pick disease
* nonsyndromic deafness
* porphyria
* Potocki–Shaffer syndrome
* Romano–Ward syndrome
* Sickle cell anemia
* Smith–Lemli–Opitz syndrome
* tetrahydrobiopterin deficiency
* Usher syndrome
* WAGR syndrome
* Wiedemann–Steiner syndrome
* Wilms' tumor
Cytogenetic band
References
*
External links
*
*
{{Chromosome genetics
Chromosomes (human), Chromosome 11
Genes on human chromosome 11, *