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
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, cultu ...
s. People normally have two copies of this chromosome. Chromosome 3 spans almost 200 million
base pairs (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
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.
[ ]
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
*
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
*
Autosomal dominant optic atrophy
*
ADOA plus syndrome
*
Biotinidase deficiency
*
Blepharophimosis, epicanthus inversus and ptosis type 1
*
Breast/colon/lung/pancreatic cancer
*
Brugada syndrome
*
Castillo fever
*
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 ac ...
*
Cataracts
A cataract is a cloudy area in the lens of the eye that leads to a decrease in vision. Cataracts often develop slowly and can affect one or both eyes. Symptoms may include faded colors, blurry or double vision, halos around light, trouble ...
*
Cerebral cavernous malformation
*
Charcot–Marie–Tooth disease, type 2
*
Charcot–Marie–Tooth disease
*
Chromosome 3q duplication syndrome
*
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 autosoma ...
* 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 quick ...
*
Dandy–Walker syndrome
*
Deafness
Deafness has varying definitions in cultural and medical contexts. In medical contexts, the meaning of deafness is hearing loss that precludes a person from understanding spoken language, an audiological condition. In this context it is written ...
*
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
*
Endplate acetylcholinesterase deficiency
*
Essential tremors
*
Ectrodactyly, Case 4
*
Glaucoma
Glaucoma is a group of eye diseases that result in damage to the optic nerve (or retina) and cause vision loss. The most common type is open-angle (wide angle, chronic simple) glaucoma, in which the drainage angle for aqueous humor, fluid withi ...
, primary open angle
*
Glycogen storage disease
*
Hailey–Hailey disease
*
Harderoporphyrinuria
*
Heart block, progressive/nonprogressive
*
Hereditary coproporphyria
*
Hereditary nonpolyposis colorectal cancer
*
HIV infection, susceptibility/resistance to
*
Hypobetalipoproteinemia, familial
*
Hypothermia
Hypothermia is defined as a body core temperature below in humans. Symptoms depend on the temperature. In mild hypothermia, there is shivering and mental confusion. In moderate hypothermia, shivering stops and confusion increases. In severe ...
*
Leukoencephalopathy with vanishing white matter
Leukoencephalopathy with vanishing white matter (VWM disease) 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 eIF2B: EIF2B1, EIF ...
*
Long QT syndrome
*
Lymphomas
*
Malignant hyperthermia susceptibility
*
Metaphyseal chondrodysplasia, Murk Jansen type
*
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
Moyamoya disease is a disease in which certain arteries in the brain are constricted. Blood flow is blocked by constriction and blood clots (thrombosis). A collateral circulation develops around the blocked vessels to compensate for the blockage, ...
*
Mucopolysaccharidosis
*
Muir–Torre family cancer syndrome
*
Myotonic dystrophy
Myotonic dystrophy (DM) is a type of muscular dystrophy, a group of genetic disorders that cause progressive muscle loss and weakness. In DM, muscles are often unable to relax after contraction. Other manifestations may include cataracts, int ...
*
Neuropathy, hereditary motor and sensory, Okinawa type
*
Night blindness
Nyctalopia (; ), also called night-blindness, is a condition making it difficult or impossible to see in relatively low light. It is a symptom of several eye diseases. Night blindness may exist from birth, or be caused by injury or malnutrition ...
*
Nonsyndromic deafness
*
Ovarian cancer
Ovarian cancer is a cancerous tumor of an ovary. It may originate from the ovary itself or more commonly from communicating nearby structures such as fallopian tubes or the inner lining of the abdomen. The ovary is made up of three different ...
*
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
*
T-cell leukemia translocation altered gene
*
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 G ...
*
Waardenburg syndrome
*
Xeroderma pigmentosum, complementation group c
Cytogenetic band
See also
*
RTP3 (gene)
References
External links
*
*
{{DEFAULTSORT:Chromosome 03 (Human)
Chromosome 03
*