Chromosome 3 (human)
Encyclopedia
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 3 spans almost 200 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 about 6.5 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 3 likely contains between 1,100 and 1,500 genes.
Genes
The following are some of the genes located on chromosome 3:p-arm
- ALAS1ALAS1Delta-aminolevulinate synthase 1 also known as ALAS1 is a protein that in humans is encoded by the ALAS1 gene. ALAS1 is an aminolevulinic acid synthase....
: aminolevulinate, delta-, synthase 1 - BTD: biotinidase
- CCR5CCR5C-C chemokine receptor type 5, also known as CCR5, is a protein that in humans is encoded by the CCR5 gene. CCR5 is a member of the beta chemokine receptors family of integral membrane proteins...
: chemokine (C-C motif) receptor 5 - CNTN4CNTN4Contactin-4 is a protein that in humans is encoded by the CNTN4 gene.-Genomics:The gene is located on the short arm of chromosome 3...
: Contactin 4 - COL7A1COL7A1Collagen alpha-1 chain is a protein that in humans is encoded by the COL7A1 gene.- Function :This gene encodes the alpha chain of type VII collagen. The type VII collagen fibril, composed of three identical alpha collagen chains, is restricted to the basement zone beneath stratified squamous...
: Collagen, type VII, alpha 1 (epidermolysis bullosa, dystrophic, dominant and recessive) - C3orf14-Chromosome 3 open reading frame 14C3orf14-Chromosome 3 open reading frame 14The human gene Chromosome 3 open reading frame 14 is a gene of uncertain function located at 3p14.2 near fragile site FRBA3—which falls between this gene and the centromere. Its protein is expected to localize to the nucleus and bind DNA...
: predicted DNA binding protein. - MITF: microphthalmia-associated transcription factor
- MLH1MLH1MutL homolog 1, colon cancer, nonpolyposis type 2 , also known as MLH1, is a human gene located on Chromosome 3. It is a gene commonly associated with hereditary nonpolyposis colorectal cancer.It can also be associated with Turcot syndrome....
: mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli) - OXTR: oxytocin receptor
- PTHR1: parathyroid hormone receptor 1
- SCN5ASCN5AThe Nav1.5 is a sodium ion channel protein that in humans is encoded by the SCN5A gene. Mutations in the gene are associated with long QT syndrome type 3 , Brugada syndrome, primary cardiac conduction disease and idiopathic ventricular fibrillation....
: sodium channel, voltage-gated, type V, alpha (long QT syndrome 3) - SLC25A20: solute carrier family 25 (carnitine/acylcarnitine translocase), member 20
- TMIE: transmembrane inner ear
- VHL: von Hippel-Lindau tumor suppressor
q-arm
- ADIPOQ: adiponectin
- CPOXCPOXCPOX may refer to:*Coproporphyrinogen III oxidase*Catalytic partial oxidation...
: coproporphyrinogen oxidase (coproporphyria, harderoporphyria) - HGD: homogentisate 1,2-dioxygenase (homogentisate oxidase)
- IFT122: intraflagellar transport gene 122
- MCCC1: methylcrotonoyl-Coenzyme A carboxylase 1 (alpha)
- PCCB: propionyl Coenzyme A carboxylase, beta polypeptide
- PDCD10PDCD10Programmed cell death protein 10 is a protein that in humans is encoded by the PDCD10 gene.-Interactions:PDCD10 has been shown to interact with RP6-213H19.1, STK25, STRN, STRN3, MOBKL3, CTTNBP2NL, STK24 and FAM40A.-Further reading:...
: programmed cell death 10 - PIK3CA: phosphoinositide-3-kinase, catalytic, alpha polypeptide
- RAB7: RAB7, member RAS oncogene family
- RHORhodopsinRhodopsin, also known as visual purple, is a biological pigment of the retina that is responsible for both the formation of the photoreceptor cells and the first events in the perception of light. Rhodopsins belong to the G-protein coupled receptor family and are extremely sensitive to light,...
: rhodopsin visual pigment - SOX2SOX2SRY -box 2, also known as SOX2, is a transcription factor that is essential to maintain self-renewal of undifferentiated embryonic stem cells....
: transcription factor - USH3A: Usher syndrome 3A
- ZNF9: zinc finger protein 9 (a cellular retroviral nucleic acid binding protein)
Diseases & disorders
The following diseases are some of those related to genes on chromosome 3:- 3-methylcrotonyl-CoA carboxylase deficiency3-methylcrotonyl-CoA carboxylase deficiency3-Methylcrotonyl-CoA carboxylase deficiency , also known as 3-Methylcrotonylglycinuria or BMCC deficiency is an inherited disorder in which the body is unable to process certain proteins properly. People with this disorder have inadequate levels of an enzyme that helps break down proteins...
- 3q29 microdeletion syndrome3q29 microdeletion syndrome3q29 microdeletion syndrome is a rare genetic disorder resulting from the deletion of a segment of chromosome 3. This syndrome was first described in 2005.- Clinical description :The clinical phenotype of 3q29 microdeletion syndrome is variable...
- AlkaptonuriaAlkaptonuriaAlkaptonuria is a rare inherited genetic disorder of phenylalanine and tyrosine metabolism. This is an autosomal recessive condition that is due to a defect in the enzyme homogentisate 1,2-dioxygenase , which participates in the degradation of tyrosine...
- Arrhythmogenic right ventricular dysplasiaArrhythmogenic right ventricular dysplasiaArrhythmogenic right ventricular dysplasia , also called arrhythmogenic right ventricular cardiomyopathy or arrhythmogenic right ventricular dysplasia/cardiomyopathy , is an inherited heart disease....
- AtransferrinemiaAtransferrinemiaAtransferrinemia, also called familial hypotransferrinemia, is an autosomal recessive metabolic disorder in which there is an absence of transferrin, a plasma protein that transports iron through the blood....
- AutismAutismAutism is a disorder of neural development characterized by impaired social interaction and communication, and by restricted and repetitive behavior. These signs all begin before a child is three years old. Autism affects information processing in the brain by altering how nerve cells and their...
- Biotinidase deficiencyBiotinidase deficiencyBiotinidase deficiency is an autosomal recessive metabolic disorder in which biotin is not released from proteins in the diet during digestion or from normal protein turnover in the cell. This situation results in biotin deficiency....
- Blepharophimosis, epicanthus inversus and ptosis type 1
- Breast/colon/lung/pancreatic cancer
- Brugada syndromeBrugada syndromeThe Brugada syndrome is a genetic disease that is characterised by abnormal electrocardiogram findings and an increased risk of sudden cardiac death. It is named by the Spanish cardiologists Pedro Brugada and Josep Brugada...
- Castillo fever
- Carnitine-acylcarnitine translocase deficiencyCarnitine-acylcarnitine translocase deficiencyCarnitine-acylcarnitine translocase deficiency is a rare, autosomal recessive metabolic disorder that prevents the body from converting long-chain fatty acids into energy, particularly during periods without food. Carnitine, a natural substance acquired mostly through the diet, is used by cells to...
- Cataracts
- Cerebral cavernous malformationCavernous angiomaCavernous angioma, also known as cerebral cavernous malformation , cavernous haemangioma, and cavernoma, is a vascular disorder that alternately has been classified as neoplastic or hamartomatous. It is characterized by grossly dilated blood vessels with a single layer of endothelium and an...
- Charcot-Marie-Tooth disease, type 2
- Charcot-Marie-Tooth diseaseCharcot-Marie-Tooth diseaseCharcot–Marie–Tooth disease- , known also as Morbus Charcot-Marie-Tooth, Charcot-Marie-Tooth neuropathy, hereditary motor and sensory neuropathy , hereditary sensorimotor neuropathy , or peroneal muscular atrophy, is an inherited disorder of nerves that takes different forms...
- Chromosome 3q duplication syndrome
- Coproporphyria
- Deafness
- Diabetes
- Dopamine receptorDopamine receptorDopamine receptors are a class of metabotropic G protein-coupled receptors that are prominent in the vertebrate central nervous system . The neurotransmitter dopamine is the primary endogenous ligand for dopamine receptors....
- Dystrophic epidermolysis bullosaEpidermolysis bullosa dystrophicaEpidermolysis bullosa dystrophica or Dystrophic EB is an inherited disease affecting the skin and other organs. "Butterfly children" is the term given to those born with the disease, as their skin is seen to be as delicate and fragile as that of a butterfly.-Causes:DEB is caused by genetic defects...
- Endplate acetlycholinesterase deficiency
- Essential tremorEssential tremorEssential tremor is a slowly progressive neurological disorder whose most recognizable feature is a tremor of the arms that is apparent during voluntary movements such as eating and writing...
s - Glaucoma, primary open angle
- Glycogen storage diseaseGlycogen storage diseaseGlycogen storage disease is the result of defects in the processing of glycogen synthesis or breakdown within muscles, liver, and other cell types. GSD has two classes of cause: genetic and acquired. Genetic GSD is caused by any inborn error of metabolism involved in these processes...
- Hailey-Hailey disease
- Harderoporphyrinuria
- Heart block, progressive/nonprogressive
- Hereditary coproporphyriaHereditary coproporphyriaHereditary coproporphyria is a type of acute porphyria that is associated with a deficiency of the enzyme coproporphyrinogen III oxidase....
- Hereditary nonpolyposis colorectal cancerHereditary nonpolyposis colorectal cancerLynch syndrome is an autosomal dominant genetic condition which has a high risk of colon cancer as well as other cancers including endometrium, ovary, stomach, small intestine, hepatobiliary tract, upper urinary tract, brain, and skin...
- HIVHIVHuman immunodeficiency virus is a lentivirus that causes acquired immunodeficiency syndrome , a condition in humans in which progressive failure of the immune system allows life-threatening opportunistic infections and cancers to thrive...
infection, susceptibility/resistance to - Hypobetalipoproteinemia, familial
- HypothermiaHypothermiaHypothermia is a condition in which core temperature drops below the required temperature for normal metabolism and body functions which is defined as . Body temperature is usually maintained near a constant level of through biologic homeostasis or thermoregulation...
- Leukoencephalopathy with vanishing white matterLeukoencephalopathy with vanishing white matterLeukoencephalopathy with vanishing white matter is an autosomal recessive neurological disease. The cause of the disease are mutations in any of the 5 genes encoding subunits of the translation initiation factor EIF-2B: EIF2B1, EIF2B2, EIF2B3, EIF2B4, or EIF2B5...
- Long QT syndromeLong QT syndromeThe long QT syndrome is a rare inborn heart condition in which delayed repolarization of the heart following a heartbeat increases the risk of episodes of torsade de pointes . These episodes may lead to palpitations, fainting and sudden death due to ventricular fibrillation...
- Lymphomas
- Malignant hyperthermia susceptibility
- Metaphyseal chondrodysplasia, Murk Jansen type
- Moebius syndrome
- Moyamoya disease
- MucopolysaccharidosisMucopolysaccharidosisMucopolysaccharidoses are a group of metabolic disorders caused by the absence or malfunctioning of lysosomal enzymes needed to break down molecules called glycosaminoglycans - long chains of sugar carbohydrates in each of our cells that help build bone, cartilage, tendons, corneas, skin and...
- Muir-Torre family cancer syndrome
- Myotonic dystrophy, type 2
- Myotonic dystrophyMyotonic dystrophyMyotonic dystrophy is a chronic, slowly progressing, highly variable inherited multisystemic disease. It is characterized by wasting of the muscles , cataracts, heart conduction defects, endocrine changes, and myotonia. Myotonic dystrophy can occur in patients of any age...
- Neuropathy, hereditary motor and sensory, Okinawa type
- Night blindness
- Nonsyndromic deafness, autosomal recessive
- 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....
- Ovarian cancerOvarian cancerOvarian cancer is a cancerous growth arising from the ovary. Symptoms are frequently very subtle early on and may include: bloating, pelvic pain, difficulty eating and frequent urination, and are easily confused with other illnesses....
- PorphyriaPorphyriaPorphyrias are a group of inherited or acquired disorders of certain enzymes in the heme bio-synthetic pathway . They are broadly classified as acute porphyrias and cutaneous porphyrias, based on the site of the overproduction and accumulation of the porphyrins...
- Propionic acidemiaPropionic acidemiaPropionic acidemia, also known as propionic aciduria, propionyl-CoA carboxylase deficiency and ketotic glycinemia, is an autosomal recessive metabolic disorder, classified as a branched-chain organic acidemia....
- Protein S deficiencyProtein S deficiencyProtein S deficiency is a disorder associated with increased risk of venous thrombosis. Protein S, a vitamin K-dependent physiological anticoagulant, acts as a nonenzymatic cofactor to activated protein C in the proteolytic degradation of factor Va and factor VIIIa...
- Pseudo-Zellweger syndrome
- Retinitis pigmentosaRetinitis pigmentosaRetinitis pigmentosa is a group of genetic eye conditions that leads to incurable blindness. In the progression of symptoms for RP, night blindness generally precedes tunnel vision by years or even decades. Many people with RP do not become legally blind until their 40s or 50s and retain some...
- Romano-Ward syndromeRomano-Ward syndromeRomano-Ward syndrome, is the major variant of long QT syndrome. It is a condition that causes a disruption of the heart's normal rhythm. This disorder is a form of long QT syndrome, which is a heart condition that causes the cardiac muscle to take longer than usual to recharge between beats...
- Sensenbrenner syndromeSensenbrenner syndromeSensenbrenner syndrome is a rare multisystem disease first described in 1975. It is inherited in an autosomal recessive fashion, and a number of genes appear to be responsible...
- Septo-optic dysplasiaSepto-optic dysplasiaSepto-optic dysplasia , also known as de Morsier syndrome is a congenital malformation syndrome made manifest by hypoplasia of the optic nerve and absence of the septum pellucidum...
- Short statureShort statureShort stature refers to a height of a human being which is below expected. Shortness is a vague term without a precise definition and with significant relativity to context...
- Spinocerebellar ataxiaSpinocerebellar ataxiaSpinocerebellar ataxia is a progressive, degenerative, genetic disease with multiple types, each of which could be considered a disease in its own right.-Classification:...
- Sucrose intoleranceSucrose intoleranceSucrose intolerance, also called congenital sucrase-isomaltase deficiency or Sucrase-isomaltase deficiency, is the condition in which sucrase, an enzyme needed for proper metabolization of sucrose, is not produced in the small intestine....
- T-cell leukemia translocation altered gene
- Usher syndrome type III
- Usher syndrome (Finland)Usher syndromeUsher syndrome is a relatively rare genetic disorder that is a leading cause of deafblindness and that is associated with a mutation in any one of 10 genes. Other names for Usher syndrome include Hallgren syndrome, Usher-Hallgren syndrome, rp-dysacusis syndrome and dystrophia retinae dysacusis...
- Usher syndromeUsher syndromeUsher syndrome is a relatively rare genetic disorder that is a leading cause of deafblindness and that is associated with a mutation in any one of 10 genes. Other names for Usher syndrome include Hallgren syndrome, Usher-Hallgren syndrome, rp-dysacusis syndrome and dystrophia retinae dysacusis...
- von Hippel-Lindau syndrome
- Waardenburg syndromeWaardenburg syndromeWaardenburg syndrome Waardenburg syndrome Waardenburg syndrome (also Waardenburg Shah Syndrome, Waardenburg-Klein syndrome, Mende's syndrome II, Van der Hoeve-Halbertsma-Waardenburg syndrome, Ptosis-Epicanthus syndrome, Van der Hoeve-Halbertsma-Gualdi syndrome, Waardenburg type Pierpont,[5] Van...
- Xeroderma pigmentosum, complementation group c