Chromosome 3 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 humans. People normally have two copies of this chromosome. Chromosome 3 spans almost 200 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 D ...

s (the building material of DNA) and represents about 6.5 percent of the total DNA in

cells Cell most often refers to: * Cell (biology), the functional basic unit of life Cell may also refer to: Locations * Monastic cell, a small room, hut, or cave in which a religious recluse lives, alternatively the small precursor of a monastery w ...

Genes

Number of genes

The following are some of the gene count estimates of human chromosome 3. 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). 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.

List of genes

The following is a partial list of genes on human chromosome 3. For complete list, see the link in the infobox on the right.

p-arm

Partial list of the genes located on p-arm (short arm) of human chromosome 3:

q-arm

Partial list of the genes located on q-arm (long arm) of human chromosome 3:

Diseases and disorders

The following diseases and disorders are some of those related to genes on chromosome 3: *

3-Methylcrotonyl-CoA carboxylase deficiency 3-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 a ...

3q29 microdeletion syndrome 3q29 microdeletion syndrome is a rare genetic disorder resulting from the deletion of a segment of chromosome 3. This syndrome was first described in 2005. Presentation The clinical phenotype of 3q29 microdeletion syndrome is variable. Clini ...

* Acute myeloid leukemia (AML) * Alkaptonuria * Arrhythmogenic right ventricular dysplasia * Atransferrinemia *

Autism The autism spectrum, often referred to as just autism or in the context of a professional diagnosis autism spectrum disorder (ASD) or autism spectrum condition (ASC), is a neurodevelopmental condition (or conditions) characterized by difficulti ...

Autosomal dominant optic atrophy An autosome is any chromosome that is not a sex chromosome. The members of an autosome pair in a diploid cell have the same morphology, unlike those in allosomal (sex chromosome) pairs, which may have different structures. The DNA in autosomes ...

ADOA plus syndrome Dominant optic atrophy, or dominant optic atrophy, Kjer's type, is an autosomally inherited disease that affects the optic nerves, causing reduced visual acuity and blindness beginning in childhood. This condition is due to mitochondrial dysfuncti ...

* Biotinidase deficiency * Blepharophimosis, epicanthus inversus and ptosis type 1 * Breast/colon/lung/pancreatic cancer *

Brugada syndrome Brugada syndrome (BrS) is a genetic disorder in which the electrical activity of the heart is abnormal due to channelopathy. It increases the risk of abnormal heart rhythms and sudden cardiac death. Those affected may have episodes of syncope ...

Castillo fever Castillo (Spanish for "castle") may refer to: People * Castillo (surname) Places Geography Dominican Republic * Castillo, Dominican Republic, a town in Duarte Province, Dominican Republic Nicaragua * El Castillo (municipality), a municipali ...

Carnitine-acylcarnitine translocase deficiency Carnitine-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 a ...

* Cataracts * Cerebral cavernous malformation * Charcot–Marie–Tooth disease, type 2 * Charcot–Marie–Tooth disease *

Chromosome 3q duplication syndrome 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 ...

Coproporphyria Hereditary coproporphyria (HCP) is a disorder of heme biosynthesis, classified as an acute hepatic porphyria. HCP is caused by a deficiency of the enzyme coproporphyrinogen oxidase, coded for by the ''CPOX'' gene, and is inherited in an autosom ...

* A location on human chromosome 3 is associated with respiratory failure and possibly with increased severity in

COVID-19 Coronavirus disease 2019 (COVID-19) is a contagious disease caused by a virus, the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). The first known case was identified in Wuhan, China, in December 2019. The disease quickl ...

* Dandy–Walker syndrome * Deafness *

Diabetes Diabetes, also known as diabetes mellitus, is a group of metabolic disorders characterized by a high blood sugar level (hyperglycemia) over a prolonged period of time. Symptoms often include frequent urination, increased thirst and increased ...

Dystrophic epidermolysis bullosa Epidermolysis bullosa dystrophica or dystrophic EB (DEB) is an inherited disease affecting the skin and other organs. "Butterfly child" is the colloquial name for a child born with the disease, as their skin is seen to be as delicate and fragile a ...

* Endplate acetylcholinesterase deficiency * Essential tremors * Ectrodactyly, Case 4 * Glaucoma, primary open angle *

Glycogen storage disease A glycogen storage disease (GSD, also glycogenosis and dextrinosis) is a metabolic disorder caused by an enzyme deficiency affecting glycogen synthesis, glycogen breakdown, or glucose breakdown, typically in muscles and/or liver cells. GSD has ...

* Hailey–Hailey disease * Harderoporphyrinuria * Heart block, progressive/nonprogressive *

Hereditary coproporphyria Hereditary coproporphyria (HCP) is a disorder of heme biosynthesis, classified as an acute hepatic porphyria. HCP is caused by a deficiency of the enzyme coproporphyrinogen oxidase, coded for by the ''CPOX'' gene, and is inherited in an autosom ...

* Hereditary nonpolyposis colorectal cancer *

HIV The human immunodeficiency viruses (HIV) are two species of '' Lentivirus'' (a subgroup of retrovirus) that infect humans. Over time, they cause acquired immunodeficiency syndrome (AIDS), a condition in which progressive failure of the immu ...

infection, susceptibility/resistance to *

Hypobetalipoproteinemia, familial Hypobetalipoproteinemia is a disorder consisting of low levels of LDL cholesterol or apolipoprotein B, below the 5th percentile. The patient can have hypobetalipoproteinemia and simultaneously have high levels of HDL cholesterol. Notably, in peop ...

* Hypothermia * Leukoencephalopathy with vanishing white matter *

Long QT syndrome Long QT syndrome (LQTS) is a condition affecting repolarization (relaxing) of the heart after a heartbeat, giving rise to an abnormally lengthy QT interval. It results in an increased risk of an irregular heartbeat which can result in fainting, d ...

* Lymphomas *

Malignant hyperthermia susceptibility Malignancy () is the tendency of a medical condition to become progressively worse. Malignancy is most familiar as a characterization of cancer. A ''malignant'' tumor contrasts with a non-cancerous ''benign'' tumor in that a malignancy is not s ...

Metaphyseal chondrodysplasia, Murk Jansen type Jansen's metaphyseal chondrodysplasia (JMC) is a disease that results from ligand-independent activation of the type 1 ( PTH1R) of the parathyroid hormone receptor, due to one of three reported mutations (activating mutation). JMC is extremely ...

* Microcoria *

Möbius syndrome Möbius syndrome is a rare congenital neurological disorder which is characterized by facial paralysis and the inability to move the eyes from side to side. Most people with Möbius syndrome are born with complete facial paralysis and cannot close ...

* Moyamoya disease *

Mucopolysaccharidosis Mucopolysaccharidoses are a group of metabolic disorders caused by the absence or malfunctioning of lysosome, lysosomal enzymes needed to break down molecules called glycosaminoglycans (GAGs). These long chains of sugar carbohydrates occur within ...

* Muir–Torre family cancer syndrome * Myotonic dystrophy * Neuropathy, hereditary motor and sensory, Okinawa type * Night blindness * Nonsyndromic deafness * Ovarian cancer * Porphyria * Propionic acidemia * Protein S deficiency * Pseudo-Zellweger syndrome * Retinitis pigmentosa * Romano–Ward syndrome * Seckel syndrome *

Sensenbrenner syndrome Sensenbrenner syndrome (OMIM #218330) is a rare (less than 20 cases reported by 2010) multisystem disease first described by Judith A. Sensenbrenner in 1975. It is inherited in an autosomal recessive fashion, and a number of genes appear to be resp ...

* Septo-optic dysplasia * Short stature * Spinocerebellar ataxia *

Sucrose intolerance Sucrose intolerance or genetic sucrase-isomaltase deficiency (GSID) is the condition in which sucrase-isomaltase, an enzyme needed for proper metabolism of sucrose (sugar) and starch (e.g., grains), is not produced or the enzyme produced is eithe ...

T-cell leukemia translocation altered gene A T cell is a type of lymphocyte. T cells are one of the important white blood cells of the immune system and play a central role in the adaptive immune response. T cells can be distinguished from other lymphocytes by the presence of a T-cell re ...

* Usher syndrome *

von Hippel–Lindau syndrome The term ''von'' () is used in German language surnames either as a nobiliary particle indicating a noble patrilineality, or as a simple preposition used by commoners that means ''of'' or ''from''. Nobility directories like the ''Almanach de Go ...

* Waardenburg syndrome *

Xeroderma pigmentosum, complementation group c Xeroderma pigmentosum (XP) is a genetic disorder in which there is a decreased ability to repair DNA damage such as that caused by ultraviolet (UV) light. Symptoms may include a severe sunburn after only a few minutes in the sun, freckling in s ...

Cytogenetic band

References

External links

* * {{DEFAULTSORT:Chromosome 03 (Human) Chromosome 03 *