Chromosome 12 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. People normally have two copies of this chromosome. Chromosome 12 spans about 133 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.
Chromosome 12 contains the
Homeobox
A homeobox is a Nucleic acid sequence, DNA sequence, around 180 base pairs long, that regulates large-scale anatomical features in the early stages of embryonic development. Mutations in a homeobox may change large-scale anatomical features of ...
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
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 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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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 ...
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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
Hereditary hemorrhagic telangiectasia (HHT), also known as Osler–Weber–Rendu disease and Osler–Weber–Rendu syndrome, is a rare autosomal dominant genetic disorder that leads to abnormal blood vessel formation in the Human skin, skin, muco ...
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hypochondrogenesis
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ichthyosis bullosa of Siemens
Ichthyosis bullosa of Siemens is a type of familial, autosomal dominant ichthyosis, a rare skin disorder.Freedberg, et al. (2003). ''Fitzpatrick's Dermatology in General Medicine''. (6th ed.). McGraw-Hill. . It is also known as bullous congenital ...
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Kniest dysplasia
Kniest dysplasia is a rare form of dwarfism caused by a mutation in the '' COL2A1'' gene on chromosome 12. The ''COL2A1'' gene is responsible for producing type II collagen. The mutation of the ''COL2A1'' gene leads to abnormal skeletal growth an ...
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Kabuki syndrome
Kabuki syndrome (previously known as Kabuki-makeup syndrome (KMS) or Niikawa–Kuroki syndrome) is a rare birth defect, congenital disorder of genetics, genetic origin. It affects multiple parts of the body, with varying symptoms and severity, alth ...
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maturity onset diabetes of the young type 3
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methylmalonic acidemia
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narcolepsy
Narcolepsy is a chronic neurological disorder that impairs the ability to regulate sleep–wake cycles, and specifically impacts REM (rapid eye movement) sleep. The symptoms of narcolepsy include excessive daytime sleepiness (EDS), sleep-r ...
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nonsyndromic deafness
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Noonan syndrome
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Parkinson disease
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Pallister-Killian syndrome (
tetrasomy 12p)
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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 ...
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schizophrenia
Schizophrenia () is a mental disorder characterized variously by hallucinations (typically, Auditory hallucination#Schizophrenia, hearing voices), delusions, thought disorder, disorganized thinking and behavior, and Reduced affect display, f ...
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spondyloepimetaphyseal dysplasia, Strudwick type
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spondyloepiphyseal dysplasia congenita
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spondyloperipheral dysplasia
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Stickler syndrome, (
COL2A1-related)
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Stuttering
Stuttering, also known as stammering, is a speech disorder characterized externally by involuntary repetitions and prolongations of sounds, syllables, words, or phrases as well as involuntary silent pauses called blocks in which the person who ...
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Triose Phosphate Isomerase deficiency
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tyrosinemia
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Von Willebrand Disease
Von Willebrand disease (VWD) is the most common heredity, hereditary coagulopathy, blood-clotting disorder in humans. An acquired form can sometimes result from other medical conditions. It arises from a deficiency in the quality or quantity of ...
Cytogenetic band
References
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External links
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{{DEFAULTSORT:Chromosome 12 (Human)
Chromosomes (human)
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