Chromosome 12 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 ar ...
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 12 spans about 133 million
base pairs (the building material of
DNA) and represents between 4 and 4.5 percent of the total DNA in
cells.
Chromosome 12 contains the
Homeobox
A homeobox is a DNA sequence, around 180 base pairs long, that regulates large-scale anatomical features in the early stages of embryonic development. For instance, mutations in a homeobox may change large-scale anatomical features of the full ...
C gene cluster.
Genes
Number of genes
The following are some of the gene count estimates of human chromosome 12. 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
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 functi ...
). 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 12. For complete list, see the link in the infobox on the right.
Diseases and disorders
The following diseases are some of those related to genes on chromosome 12:
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achondrogenesis type 2
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collagenopathy, types II and XI
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cornea plana 2
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episodic ataxia
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hereditary hemorrhagic telangiectasia
*
hypochondrogenesis
*
ichthyosis bullosa of Siemens
*
Kniest dysplasia
*
Kabuki syndrome
Kabuki syndrome (also previously known as Kabuki-makeup syndrome (KMS) or Niikawa–Kuroki syndrome) is a congenital disorder of genetic origin. It affects multiple parts of the body, with varying symptoms and severity, although the most common is ...
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maturity onset diabetes of the young type 3
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methylmalonic acidemia
*
narcolepsy
Narcolepsy is a long-term neurological disorder that involves a decreased ability to regulate sleep–wake cycles. Symptoms often include periods of excessive daytime sleepiness and brief involuntary sleep episodes. About 70% of those affec ...
*
nonsyndromic deafness
Nonsyndromic deafness is hearing loss that is not associated with other signs and symptoms. In contrast, syndromic deafness involves hearing loss that occurs with abnormalities in other parts of the body. Genetic changes are related to the follo ...
*
Noonan syndrome
*
Parkinson disease Parkinson may refer to:
* Parkinson (surname)
* ''Parkinson'' (TV series), British chat show, presented by Sir Michael Parkinson
* Parkinson, Queensland, suburb of Brisbane, Australia
* The Parkinsons (fl. early 20th century), American father-and-s ...
*
Pallister-Killian syndrome (
tetrasomy 12p)
*
phenylketonuria
Phenylketonuria (PKU) is an inborn error of metabolism that results in decreased metabolism of the amino acid phenylalanine. Untreated PKU can lead to intellectual disability, seizures, behavioral problems, and mental disorders. It may also r ...
*
spondyloepimetaphyseal dysplasia, Strudwick type
*
spondyloepiphyseal dysplasia congenita
*
spondyloperipheral dysplasia
*
Stickler syndrome, (
COL2A1-related)
*
Stuttering
*
Triose Phosphate Isomerase deficiency
*
tyrosinemia
*
Von Willebrand Disease
Cytogenetic band
References
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External links
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{{DEFAULTSORT:Chromosome 12 (Human)
Chromosomes (human)
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