Chromosome 12 (human)
Encyclopedia
Chromosome 12 is one of the 23 pairs of chromosome
s in human
s. People normally have two copies of this chromosome. Chromosome 12 spans about 143 million base pair
s (the building material of DNA
) and represents between 4 and 4.5 percent of the total DNA in cells
.
Identifying gene
s on each chromosome is an active area of genetic research. Because researchers use different approaches to predict the number of genes on each chromosome, the estimated number of genes varies. Chromosome 12 likely contains between 1,000 and 1,300 genes. It also contains the Homeobox
C gene cluster.
Chromosome
A chromosome is an organized structure of DNA and protein found in cells. It is a single piece of coiled DNA containing many genes, regulatory elements and other nucleotide sequences. Chromosomes also contain DNA-bound proteins, which serve to package the DNA and control its functions.Chromosomes...
s in human
Human
Humans are the only living species in the Homo genus...
s. People normally have two copies of this chromosome. Chromosome 12 spans about 143 million base pair
Base pair
In molecular biology and genetics, the linking between two nitrogenous bases on opposite complementary DNA or certain types of RNA strands that are connected via hydrogen bonds is called a base pair...
s (the building material of DNA
DNA
Deoxyribonucleic acid is a nucleic acid that contains the genetic instructions used in the development and functioning of all known living organisms . The DNA segments that carry this genetic information are called genes, but other DNA sequences have structural purposes, or are involved in...
) and represents between 4 and 4.5 percent of the total DNA in cells
Cell (biology)
The cell is the basic structural and functional unit of all known living organisms. It is the smallest unit of life that is classified as a living thing, and is often called the building block of life. The Alberts text discusses how the "cellular building blocks" move to shape developing embryos....
.
Identifying gene
Gene
A gene is a molecular unit of heredity of a living organism. It is a name given to some stretches of DNA and RNA that code for a type of protein or for an RNA chain that has a function in the organism. Living beings depend on genes, as they specify all proteins and functional RNA chains...
s on each chromosome is an active area of genetic research. Because researchers use different approaches to predict the number of genes on each chromosome, the estimated number of genes varies. Chromosome 12 likely contains between 1,000 and 1,300 genes. It also contains the Homeobox
Homeobox
A homeobox is a DNA sequence found within genes that are involved in the regulation of patterns of anatomical development in animals, fungi and plants.- Discovery :...
C gene cluster.
Genes
The following are some of the genes located on chromosome 12:Obed M. Ha- ACVRL1ACVRL1Serine/threonine-protein kinase receptor R3 is an enzyme that in humans is encoded by the ACVRL1 gene.ACVRL1 is a receptor in the TGF beta signaling pathway.It is also known as "activin receptor-like kinase 1", or "ALK1".-Further reading:...
: activin A receptor type II-like 1 - CBX5Heterochromatin protein 1The family of Heterochromatin Protein 1 are highly conserved adapter proteins, which have important functions in the cell nucleus...
: chromobox homolog 5 - COL2A1COL2A1Collagen, type II, alpha 1 , also known as COL2A1, is a human gene that provides instructions for the production of the pro-alpha1 chain of type II collagen....
: collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital) - HPD: 4-hydroxyphenylpyruvate dioxygenase
- KCNA1KCNA1Potassium voltage-gated channel subfamily A member 1 also known as Kv1.1 is a shaker related voltage-gated potassium channel that in humans is encoded by the KCNA1 gene. The Isaacs syndrome is a result of an autoimmune reaction against the Kv1.1 ion channel.- Genomics :The gene is located on the...
: potassium voltage-gated channel subfamily A member 1 at 12p13.32 - KERAKERA (gene)Keratocan also known as keratan sulfate proteoglycan keratocan is a protein that in humans is encoded by the KERA gene.Keratan sulfate proteoglycans are members of the small leucine-rich proteoglycan family. KSPGs, particularly keratocan, lumican and mimecan, are important to the transparency of...
: keratocan - LRRK2LRRK2Leucine-rich repeat kinase 2 , also known as dardarin, is an enzyme that in humans is encoded by the LRRK2 gene. LRRK2 is a member of the leucine-rich repeat kinase family...
: leucine-rich repeat kinase 2 - MMABMMABCobyrinic acid a,c-diamide adenosyltransferase, mitochondrial is an enzyme that in humans is encoded by the MMAB gene.-External links:* -Further reading:...
: methylmalonic aciduria (cobalamin dewrong ficiency) cblB type - MYO1AMYO1AMyosin-Ia is a protein that in humans is encoded by the MYO1A gene.The protein encoded by this gene belongs to the myosin superfamily. Myosins are molecular motors that, upon interaction with actin filaments, utilize energy from ATP hydrolysis to generate mechanical force. Each myosin has a...
: myosin IA - NANOGNanog (transcription factor)NANOG is a transcription factor critically involved with self-renewal of undifferentiated embryonic stem cells. In humans, this protein is encoded by the NANOG gene.- Structure :...
: NK-2 type homeodomain gene - PAH: phenylalanine hydroxylase
- PPP1R12APPP1R12AProtein phosphatase 1 regulatory subunit 12A is an enzyme that in humans is encoded by the PPP1R12A gene.-Interactions:PPP1R12A has been shown to interact with Interleukin 16.-External links:* Info with links in the...
: protein phosphatase 1, regulatory (inhibitor) subungfdit 12A - PTPN11PTPN11Tyrosine-protein phosphatase non-receptor type 11 also known as protein-tyrosine phosphatase 1D or protein-tyrosine phosphatase 2C is an enzyme that in humans is encoded by the PTPN11 gene. PTPN11 is a protein tyrosine phosphatase Shp2.PTPN11 is a member of the protein tyrosine phosphatase ...
: protein tyrosine phosphatase, non-receptor type 11 (Noonan syndrome 1) - KRASKRASGTPase KRas also known as V-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog and KRAS, is a protein that in humans is encoded by the KRAS gene. Like other members of the Ras family, the KRAS protein is a GTPase and is an early player in many signal transduction pathways...
: V-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog
Diseases & disorders
The following diseases are some of those related to genes on chromosome 12:- achondrogenesis type 2Achondrogenesis type 2Infants with achondrogenesis, type 2 have short arms and legs, a small chest with short ribs, and underdeveloped lungs. Achondrogenesis, type 2 is a subtype of collagenopathy, types II and XI. This condition is also associated with a lack of bone formation in the spine and pelvis...
- collagenopathy, types II and XICollagenopathy, types II and XIThe type II and XI collagenopathies are a group of disorders that affect connective tissue, the tissue that supports the body's joints and organs. These disorders are caused by defects in type II or type XI collagen. Collagens are complex molecules that provide structure, strength, and elasticity ...
- cornea plana 2Cornea plana 2Cornea plana 2 is an extremely rare congenital hereditary deformity of the eye surface, leading to severe decrease in corneal curvature. There is evidence that cornea plana 2 is caused by mutations in KERA gene encoding keratocan.-External links:...
- episodic ataxiaEpisodic ataxiaEpisodic ataxia is an autosomal dominant disorder characterized by sporadic bouts of ataxia with or without myokymia . There are seven types recognised but the majority are due to two recognized entities. Ataxia can be provoked by stress, startle, or heavy exertion such as exercise. Symptoms can...
- hereditary hemorrhagic telangiectasiaHereditary hemorrhagic telangiectasiaHereditary hemorrhagic telangiectasia , also known as Osler-Weber-Rendu disease and Osler-Weber-Rendu syndrome, is a genetic disorder that leads to abnormal blood vessel formation in the skin, mucous membranes, and often in organs such as the lungs, liver and brain.It may lead to nosebleeds, acute...
- hypochondrogenesisHypochondrogenesisHypochondrogenesis is a severe genetic disorder causing malformations of bone growth. The condition is characterized by a short body and limbs and abnormal bone formation in the spine and pelvis....
- ichthyosis bullosa of SiemensIchthyosis bullosa of SiemensIchthyosis bullosa of Siemens is a rare skin disorder which is a type of familial, autosomal dominant ichthyosis. It is also known as bullous congenital ichthyosiform erythroderma of Siemens or ichthyosis exfoliativa...
- Kniest dysplasiaKniest dysplasiaKniest dysplasia is an uncommon inherited disorder of bone growth. The condition is characterized by dwarfism, enlarged joints, and other skeletal abnormalities, and problems with vision and hearing...
- maturity onset diabetes of the youngMaturity onset diabetes of the youngMaturity onset diabetes of the young refers to any of several hereditary forms of diabetes caused by mutations in an autosomal dominant gene disrupting insulin production...
type 3 - methylmalonic acidemiaMethylmalonic acidemiaMethylmalonic acidemia , also called methylmalonic aciduria, is an autosomal recessive metabolic disorder. It is a classical type of organic acidemia....
- narcolepsyNarcolepsyNarcolepsy is a chronic sleep disorder, or dyssomnia, characterized by excessive sleepiness and sleep attacks at inappropriate times, such as while at work. People with narcolepsy often experience disturbed nocturnal sleep and an abnormal daytime sleep pattern, which often is confused with insomnia...
- nonsyndromic deafnessNonsyndromic deafnessNonsyndromic 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....
- nonsyndromic deafness, autosomal dominant
- Noonan syndromeNoonan syndromeNoonan Syndrome is a relatively common autosomal dominant congenital disorder considered to be a type of dwarfism, that affects both males and females equally. It used to be referred to as the male version of Turner's syndrome ; however, the genetic causes of Noonan syndrome and Turner syndrome...
- Parkinson disease
- Pallister-Killian syndromePallister-Killian syndromePallister–Killian syndrome is an extremely rare genetic disorder occurring in humans. Pallister-Killian occurs due to the presence of the anomalous extra isochromosome 12p, the short arm of the twelfth chromosome. This leads to the development of tetrasomy 12p...
(tetrasomyTetrasomyA tetrasomy is a form of aneuploidy with the presence of four copies, instead of the normal two, of a particular chromosome.-Full:Full tetrasomy of an individual occurs due to non-disjunction when the cells are dividing to form egg and sperm cells . This can result in extra chromosomes in a sperm...
12p) - phenylketonuriaPhenylketonuriaPhenylketonuria is an autosomal recessive metabolic genetic disorder characterized by a mutation in the gene for the hepatic enzyme phenylalanine hydroxylase , rendering it nonfunctional. This enzyme is necessary to metabolize the amino acid phenylalanine to the amino acid tyrosine...
- spondyloepimetaphyseal dysplasia, Strudwick typeSpondyloepimetaphyseal dysplasia, Strudwick typeSpondyloepimetaphyseal dysplasia, Strudwick type is an inherited disorder of bone growth that results in dwarfism, characteristic skeletal abnormalities, and problems with vision. The name of the condition indicates that it affects the bones of the spine and two regions near the ends of bones...
- spondyloepiphyseal dysplasia congenitaSpondyloepiphyseal dysplasia congenitaSpondyloepiphyseal dysplasia congenita is a rare disorder of bone growth that results in dwarfism, characteristic skeletal abnormalities, and occasionally problems with vision and hearing...
- spondyloperipheral dysplasiaSpondyloperipheral dysplasiaSpondyloperipheral dysplasia is an autosomal dominant disorder of bone growth. The condition is characterized by flattened bones of the spine and unusually short fingers and toes . Some affected individuals also have other skeletal abnormalities, short stature, nearsightedness , hearing loss, and...
- Stickler syndromeStickler syndromeStickler syndrome is a group of genetic disorders affecting connective tissue, specifically collagen. It was first studied and characterized by Gunnar B. Stickler in 1965. Stickler syndrome is a subtype of collagenopathy, types II and XI...
- Stickler syndrome, COL2A1
- StutteringStutteringStuttering , also known as stammering , is a speech disorder in which the flow of speech is disrupted by involuntary repetitions and prolongations of sounds, syllables, words or phrases, and involuntary silent pauses or blocks in which the stutterer is unable to produce sounds...
- Triose Phosphate Isomerase deficiency
- tyrosinemiaTyrosinemiaTyrosinemia is an error of metabolism, usually inborn, in which the body cannot effectively break down the amino acid tyrosine. Symptoms include liver and kidney disturbances and mental retardation...
- Von Willebrand DiseaseVon Willebrand diseasevon Willebrand disease is the most common hereditary coagulation abnormality described in humans, although it can also be acquired as a result of other medical conditions. It arises from a qualitative or quantitative deficiency of von Willebrand factor , a multimeric protein that is required for...