Human chromosome 17
   HOME

TheInfoList



OR:

Chromosome 17 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 are ...
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 17 spans more than 83 million base pairs (the building material of DNA) and represents between 2.5 and 3% of the total DNA in cells. Chromosome 17 contains the Homeobox B gene cluster.


Genes


Number of genes

The following are some of the gene count estimates of human chromosome 17. Because researchers use different approaches to
genome annotation DNA annotation or genome annotation is the process of identifying the locations of genes and all of the coding regions in a genome and determining what those genes do. An annotation (irrespective of the context) is a note added by way of explanati ...
their predictions of the
number of genes In biology, the word gene (from , ; "...Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation'' or ''birth'' or ''gender'') can have several different meanings. The Mendelian gene is a ba ...
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 functiona ...
). 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 17. For complete list, see the link in the infobox on the right. The following are some of the genes and their corresponding Cytogenetic location on chromosome 17:


p-arm


q-arm


Diseases and disorders

The following diseases are related to genes on chromosome 17: *
17q12 microdeletion syndrome 17q12 microdeletion syndrome, also known as 17q12 deletion syndrome, is a rare chromosomal anomaly caused by the deletion of a small amount of material from a region in the long arm of chromosome 17. It is typified by deletion of the HNF1B gen ...
* Koolen–de Vries syndrome * Alexander disease *
Andersen–Tawil syndrome Andersen–Tawil syndrome, also called Andersen syndrome and long QT syndrome 7, is a rare genetic disorder affecting several parts of the body. The three predominant features of Andersen–Tawil syndrome include disturbances of the electrical f ...
*
Aneurysmal bone cyst Aneurysmal bone cyst (ABC) is a non-cancerous bone tumor composed of multiple varying sizes of spaces in a bone which are filled with blood. The term is a misnomer, as the lesion is neither an aneurysm nor a cyst. It generally presents with pai ...
*
Birt–Hogg–Dubé syndrome Birt–Hogg–Dubé syndrome (BHD), also Hornstein–Birt–Hogg–Dubé syndrome, Hornstein–Knickenberg syndrome, and fibrofolliculomas with trichodiscomas and acrochordons is a human autosomal dominant genetic disorder that can cause suscept ...
*
Bladder cancer Bladder cancer is any of several types of cancer arising from the tissues of the urinary bladder. Symptoms include blood in the urine, pain with urination, and low back pain. It is caused when epithelial cells that line the bladder become ma ...
*
Breast cancer Breast cancer is cancer that develops from breast tissue. Signs of breast cancer may include a lump in the breast, a change in breast shape, dimpling of the skin, milk rejection, fluid coming from the nipple, a newly inverted nipple, or a r ...
* Bruck syndrome * Campomelic dysplasia *
Canavan disease Canavan disease, or Canavan-Van Bogaert-Bertrand disease, is a rare and fatal autosomal recessive degenerative disease that causes progressive damage to nerve cells and loss of white matter in the brain. It is one of the most common degenerative ...
* Cerebroretinal microangiopathy with calcifications and cysts *
Charcot–Marie–Tooth disease Charcot–Marie–Tooth disease (CMT) is a hereditary motor and sensory neuropathy of the peripheral nervous system characterized by progressive loss of muscle tissue and touch sensation across various parts of the body. This disease is the most ...
*
Chronic lymphocytic leukaemia Chronic lymphocytic leukemia (CLL) is a type of cancer in which the bone marrow makes too many lymphocytes (a type of white blood cell). Early on, there are typically no symptoms. Later, non-painful lymph node swelling, feeling tired, fever, nigh ...
, tp53 *
Corticobasal degeneration Corticobasal degeneration (CBD) is a rare neurodegenerative disease involving the cerebral cortex and the basal ganglia. CBD symptoms typically begin in people from 50 to 70 years of age, and the average disease duration is six years. It is chara ...
* Cystinosis * Depression (mood), Depression * Ehlers–Danlos syndrome * Epidermodysplasia verruciformis * Frontotemporal dementia and parkinsonism linked to chromosome 17 * Galactosemia * Glycogen storage disease type II (Johann Pompe, Pompe disease) * Hereditary neuropathy with liability to pressure palsies * Howel–Evans syndrome * Li–Fraumeni syndrome * Maturity onset diabetes of the young type 5 * Miller–Dieker syndrome * Multiple synostoses syndrome * Neurofibromatosis type I * Nonsyndromic deafness * Obsessive–compulsive disorder * Osteogenesis imperfecta * Potocki–Lupski syndrome * Proximal symphalangism * Sanfilippo syndrome * Smith–Magenis syndrome * Usher syndrome * Very long-chain acyl-coenzyme A dehydrogenase deficiency * Von Gierke's syndrome


Cytogenetic band


References

* * Gene Card Website https://www.genecards.org/cgi-bin/carddisp.pl?gene=SCN4A


External links

* * {{DEFAULTSORT:Chromosome 17 (Human) Chromosomes (human) Genes on human chromosome 17, *